SNP Links for Protein (Select 1042779515) - SNP

Links from Protein

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Select item 14907252351.

rs1490725235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:62627073 (GRCh38)
11:62394545 (GRCh37)
Canonical SPDI:: NC_000011.10:62627072:T:G
Gene:: GANAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62627073T>G, NC_000011.9:g.62394545T>G, NG_053018.1:g.24654A>C, NM_198335.4:c.2363A>C, NM_198335.3:c.2363A>C, NM_198334.3:c.2297A>C, NM_198334.2:c.2297A>C, NM_001329224.2:c.1574A>C, NM_001329224.1:c.1574A>C, NM_001329222.2:c.2006A>C, NM_001329222.1:c.2006A>C, NM_001329225.2:c.1574A>C, NM_001329225.1:c.1574A>C, NM_001329223.2:c.2006A>C, NM_001329223.1:c.2006A>C, NM_001278194.2:c.2006A>C, NM_001278194.1:c.2006A>C, NM_001278192.2:c.2021A>C, NM_001278192.1:c.2021A>C, NM_001278193.2:c.1955A>C, NM_001278193.1:c.1955A>C, NG_031863.1:g.103A>C, NM_014610.3:c.*85A>C, NM_014610.2:c.2363A>C, XM_047426649.1:c.2072A>C, NM_014610.1:c.2297A>C, NP_938149.2:p.Gln788Pro, NP_938148.1:p.Gln766Pro, NP_001316153.1:p.Gln525Pro, NP_001316151.1:p.Gln669Pro, NP_001316154.1:p.Gln525Pro, NP_001316152.1:p.Gln669Pro, NP_001265123.1:p.Gln669Pro, NP_001265121.1:p.Gln674Pro, NP_001265122.1:p.Gln652Pro, XP_047282605.1:p.Gln691Pro

Select item 14897733352.

rs1489773335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62639063 (GRCh38)
11:62406535 (GRCh37)
Canonical SPDI:: NC_000011.10:62639062:C:T
Gene:: GANAB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.62639063C>T, NC_000011.9:g.62406535C>T, NG_053018.1:g.12664G>A, NM_198335.4:c.300G>A, NM_198335.3:c.300G>A, NM_198334.3:c.300G>A, NM_198334.2:c.300G>A, NM_001329224.2:c.-477G>A, NM_001329224.1:c.-477G>A, NM_001329222.2:c.9G>A, NM_001329222.1:c.9G>A, NM_001329225.2:c.-477G>A, NM_001329225.1:c.-477G>A, NM_001329223.2:c.9G>A, NM_001329223.1:c.9G>A, NM_001278194.2:c.9G>A, NM_001278194.1:c.9G>A, NM_014610.3:c.300G>A, NM_014610.2:c.300G>A, XM_047426649.1:c.9G>A, NM_014610.1:c.300G>A

Select item 14884145993.

rs1488414599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62634993 (GRCh38)
11:62402465 (GRCh37)
Canonical SPDI:: NC_000011.10:62634992:C:G
Gene:: GANAB (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.62634993C>G, NC_000011.9:g.62402465C>G, NG_053018.1:g.16734G>C, NM_198335.4:c.388G>C, NM_198335.3:c.388G>C, NM_198334.3:c.388G>C, NM_198334.2:c.388G>C, NM_001329224.2:c.-389G>C, NM_001329224.1:c.-389G>C, NM_001329222.2:c.97G>C, NM_001329222.1:c.97G>C, NM_001329225.2:c.-389G>C, NM_001329225.1:c.-389G>C, NM_001329223.2:c.97G>C, NM_001329223.1:c.97G>C, NM_001278194.2:c.97G>C, NM_001278194.1:c.97G>C, NM_001278192.2:c.46G>C, NM_001278192.1:c.46G>C, NM_001278193.2:c.46G>C, NM_001278193.1:c.46G>C, NM_014610.3:c.388G>C, NM_014610.2:c.388G>C, XM_047426649.1:c.97G>C, NM_014610.1:c.388G>C, NP_938149.2:p.Val130Leu, NP_938148.1:p.Val130Leu, NP_001316151.1:p.Val33Leu, NP_001316152.1:p.Val33Leu, NP_001265123.1:p.Val33Leu, NP_001265121.1:p.Val16Leu, NP_001265122.1:p.Val16Leu, XP_047282605.1:p.Val33Leu

Select item 14852564444.

rs1485256444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:62627310 (GRCh38)
11:62394782 (GRCh37)
Canonical SPDI:: NC_000011.10:62627309:T:A,NC_000011.10:62627309:T:C
Gene:: GANAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62627310T>A, NC_000011.10:g.62627310T>C, NC_000011.9:g.62394782T>A, NC_000011.9:g.62394782T>C, NG_053018.1:g.24417A>T, NG_053018.1:g.24417A>G, NM_198335.4:c.2290A>T, NM_198335.4:c.2290A>G, NM_198335.3:c.2290A>T, NM_198335.3:c.2290A>G, NM_198334.3:c.2224A>T, NM_198334.3:c.2224A>G, NM_198334.2:c.2224A>T, NM_198334.2:c.2224A>G, NM_001329224.2:c.1501A>T, NM_001329224.2:c.1501A>G, NM_001329224.1:c.1501A>T, NM_001329224.1:c.1501A>G, NM_001329222.2:c.1933A>T, NM_001329222.2:c.1933A>G, NM_001329222.1:c.1933A>T, NM_001329222.1:c.1933A>G, NM_001329225.2:c.1501A>T, NM_001329225.2:c.1501A>G, NM_001329225.1:c.1501A>T, NM_001329225.1:c.1501A>G, NM_001329223.2:c.1933A>T, NM_001329223.2:c.1933A>G, NM_001329223.1:c.1933A>T, NM_001329223.1:c.1933A>G, NM_001278194.2:c.1933A>T, NM_001278194.2:c.1933A>G, NM_001278194.1:c.1933A>T, NM_001278194.1:c.1933A>G, NM_001278192.2:c.1948A>T, NM_001278192.2:c.1948A>G, NM_001278192.1:c.1948A>T, NM_001278192.1:c.1948A>G, NM_001278193.2:c.1882A>T, NM_001278193.2:c.1882A>G, NM_001278193.1:c.1882A>T, NM_001278193.1:c.1882A>G, NM_014610.3:c.*12A>T, NM_014610.3:c.*12A>G, NM_014610.2:c.2290A>T, NM_014610.2:c.2290A>G, XM_047426649.1:c.1999A>T, XM_047426649.1:c.1999A>G, NM_014610.1:c.2224A>T, NM_014610.1:c.2224A>G, NP_938149.2:p.Ile764Leu, NP_938149.2:p.Ile764Val, NP_938148.1:p.Ile742Leu, NP_938148.1:p.Ile742Val, NP_001316153.1:p.Ile501Leu, NP_001316153.1:p.Ile501Val, NP_001316151.1:p.Ile645Leu, NP_001316151.1:p.Ile645Val, NP_001316154.1:p.Ile501Leu, NP_001316154.1:p.Ile501Val, NP_001316152.1:p.Ile645Leu, NP_001316152.1:p.Ile645Val, NP_001265123.1:p.Ile645Leu, NP_001265123.1:p.Ile645Val, NP_001265121.1:p.Ile650Leu, NP_001265121.1:p.Ile650Val, NP_001265122.1:p.Ile628Leu, NP_001265122.1:p.Ile628Val, XP_047282605.1:p.Ile667Leu, XP_047282605.1:p.Ile667Val

Select item 14850880815.

rs1485088081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62629831 (GRCh38)
11:62397303 (GRCh37)
Canonical SPDI:: NC_000011.10:62629830:T:C
Gene:: GANAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62629831T>C, NC_000011.9:g.62397303T>C, NG_053018.1:g.21896A>G, NM_198335.4:c.1786A>G, NM_198335.3:c.1786A>G, NM_198334.3:c.1720A>G, NM_198334.2:c.1720A>G, NM_001329224.2:c.997A>G, NM_001329224.1:c.997A>G, NM_001329222.2:c.1429A>G, NM_001329222.1:c.1429A>G, NM_001329225.2:c.997A>G, NM_001329225.1:c.997A>G, NM_001329223.2:c.1429A>G, NM_001329223.1:c.1429A>G, NM_001278194.2:c.1429A>G, NM_001278194.1:c.1429A>G, NM_001278192.2:c.1444A>G, NM_001278192.1:c.1444A>G, NM_001278193.2:c.1378A>G, NM_001278193.1:c.1378A>G, NM_014610.3:c.1786A>G, NM_014610.2:c.1786A>G, XM_047426649.1:c.1495A>G, NM_014610.1:c.1720A>G, NP_938149.2:p.Ile596Val, NP_938148.1:p.Ile574Val, NP_001316153.1:p.Ile333Val, NP_001316151.1:p.Ile477Val, NP_001316154.1:p.Ile333Val, NP_001316152.1:p.Ile477Val, NP_001265123.1:p.Ile477Val, NP_001265121.1:p.Ile482Val, NP_001265122.1:p.Ile460Val, XP_047282605.1:p.Ile499Val

Select item 14847428296.

rs1484742829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62630756 (GRCh38)
11:62398228 (GRCh37)
Canonical SPDI:: NC_000011.10:62630755:C:G
Gene:: GANAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62630756C>G, NC_000011.9:g.62398228C>G, NG_053018.1:g.20971G>C, NM_198335.4:c.1297G>C, NM_198335.3:c.1297G>C, NM_198334.3:c.1231G>C, NM_198334.2:c.1231G>C, NM_001329224.2:c.508G>C, NM_001329224.1:c.508G>C, NM_001329222.2:c.940G>C, NM_001329222.1:c.940G>C, NM_001329225.2:c.508G>C, NM_001329225.1:c.508G>C, NM_001329223.2:c.940G>C, NM_001329223.1:c.940G>C, NM_001278194.2:c.940G>C, NM_001278194.1:c.940G>C, NM_001278192.2:c.955G>C, NM_001278192.1:c.955G>C, NM_001278193.2:c.889G>C, NM_001278193.1:c.889G>C, NM_014610.3:c.1297G>C, NM_014610.2:c.1297G>C, XM_047426649.1:c.1006G>C, NM_014610.1:c.1231G>C, NP_938149.2:p.Glu433Gln, NP_938148.1:p.Glu411Gln, NP_001316153.1:p.Glu170Gln, NP_001316151.1:p.Glu314Gln, NP_001316154.1:p.Glu170Gln, NP_001316152.1:p.Glu314Gln, NP_001265123.1:p.Glu314Gln, NP_001265121.1:p.Glu319Gln, NP_001265122.1:p.Glu297Gln, XP_047282605.1:p.Glu336Gln

Select item 14842935287.

rs1484293528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62633016 (GRCh38)
11:62400488 (GRCh37)
Canonical SPDI:: NC_000011.10:62633015:C:T
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62633016C>T, NC_000011.9:g.62400488C>T, NG_053018.1:g.18711G>A, NM_198335.4:c.870G>A, NM_198335.3:c.870G>A, NM_198334.3:c.804G>A, NM_198334.2:c.804G>A, NM_001329224.2:c.81G>A, NM_001329224.1:c.81G>A, NM_001329222.2:c.513G>A, NM_001329222.1:c.513G>A, NM_001329225.2:c.81G>A, NM_001329225.1:c.81G>A, NM_001329223.2:c.513G>A, NM_001329223.1:c.513G>A, NM_001278194.2:c.513G>A, NM_001278194.1:c.513G>A, NM_001278192.2:c.528G>A, NM_001278192.1:c.528G>A, NM_001278193.2:c.462G>A, NM_001278193.1:c.462G>A, NM_014610.3:c.870G>A, NM_014610.2:c.870G>A, XM_047426649.1:c.579G>A, NM_014610.1:c.804G>A

Select item 14824213068.

rs1482421306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:62629861 (GRCh38)
11:62397333 (GRCh37)
Canonical SPDI:: NC_000011.10:62629860:C:G,NC_000011.10:62629860:C:T
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62629861C>G, NC_000011.10:g.62629861C>T, NC_000011.9:g.62397333C>G, NC_000011.9:g.62397333C>T, NG_053018.1:g.21866G>C, NG_053018.1:g.21866G>A, NM_198335.4:c.1756G>C, NM_198335.4:c.1756G>A, NM_198335.3:c.1756G>C, NM_198335.3:c.1756G>A, NM_198334.3:c.1690G>C, NM_198334.3:c.1690G>A, NM_198334.2:c.1690G>C, NM_198334.2:c.1690G>A, NM_001329224.2:c.967G>C, NM_001329224.2:c.967G>A, NM_001329224.1:c.967G>C, NM_001329224.1:c.967G>A, NM_001329222.2:c.1399G>C, NM_001329222.2:c.1399G>A, NM_001329222.1:c.1399G>C, NM_001329222.1:c.1399G>A, NM_001329225.2:c.967G>C, NM_001329225.2:c.967G>A, NM_001329225.1:c.967G>C, NM_001329225.1:c.967G>A, NM_001329223.2:c.1399G>C, NM_001329223.2:c.1399G>A, NM_001329223.1:c.1399G>C, NM_001329223.1:c.1399G>A, NM_001278194.2:c.1399G>C, NM_001278194.2:c.1399G>A, NM_001278194.1:c.1399G>C, NM_001278194.1:c.1399G>A, NM_001278192.2:c.1414G>C, NM_001278192.2:c.1414G>A, NM_001278192.1:c.1414G>C, NM_001278192.1:c.1414G>A, NM_001278193.2:c.1348G>C, NM_001278193.2:c.1348G>A, NM_001278193.1:c.1348G>C, NM_001278193.1:c.1348G>A, NM_014610.3:c.1756G>C, NM_014610.3:c.1756G>A, NM_014610.2:c.1756G>C, NM_014610.2:c.1756G>A, XM_047426649.1:c.1465G>C, XM_047426649.1:c.1465G>A, NM_014610.1:c.1690G>C, NM_014610.1:c.1690G>A, NP_938149.2:p.Gly586Arg, NP_938149.2:p.Gly586Arg, NP_938148.1:p.Gly564Arg, NP_938148.1:p.Gly564Arg, NP_001316153.1:p.Gly323Arg, NP_001316153.1:p.Gly323Arg, NP_001316151.1:p.Gly467Arg, NP_001316151.1:p.Gly467Arg, NP_001316154.1:p.Gly323Arg, NP_001316154.1:p.Gly323Arg, NP_001316152.1:p.Gly467Arg, NP_001316152.1:p.Gly467Arg, NP_001265123.1:p.Gly467Arg, NP_001265123.1:p.Gly467Arg, NP_001265121.1:p.Gly472Arg, NP_001265121.1:p.Gly472Arg, NP_001265122.1:p.Gly450Arg, NP_001265122.1:p.Gly450Arg, XP_047282605.1:p.Gly489Arg, XP_047282605.1:p.Gly489Arg

Select item 14822168229.

rs1482216822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62634883 (GRCh38)
11:62402355 (GRCh37)
Canonical SPDI:: NC_000011.10:62634882:A:G
Gene:: GANAB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.62634883A>G, NC_000011.9:g.62402355A>G, NG_053018.1:g.16844T>C, NM_198335.4:c.498T>C, NM_198335.3:c.498T>C, NM_198334.3:c.498T>C, NM_198334.2:c.498T>C, NM_001329224.2:c.-279T>C, NM_001329224.1:c.-279T>C, NM_001329222.2:c.207T>C, NM_001329222.1:c.207T>C, NM_001329225.2:c.-279T>C, NM_001329225.1:c.-279T>C, NM_001329223.2:c.207T>C, NM_001329223.1:c.207T>C, NM_001278194.2:c.207T>C, NM_001278194.1:c.207T>C, NM_001278192.2:c.156T>C, NM_001278192.1:c.156T>C, NM_001278193.2:c.156T>C, NM_001278193.1:c.156T>C, NM_014610.3:c.498T>C, NM_014610.2:c.498T>C, XM_047426649.1:c.207T>C, NM_014610.1:c.498T>C

Select item 148080619310.

rs1480806193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62626655 (GRCh38)
11:62394127 (GRCh37)
Canonical SPDI:: NC_000011.10:62626654:G:A,NC_000011.10:62626654:G:C
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.62626655G>A, NC_000011.10:g.62626655G>C, NC_000011.9:g.62394127G>A, NC_000011.9:g.62394127G>C, NG_053018.1:g.25072C>T, NG_053018.1:g.25072C>G, NM_198335.4:c.2493C>T, NM_198335.4:c.2493C>G, NM_198335.3:c.2493C>T, NM_198335.3:c.2493C>G, NM_198334.3:c.2427C>T, NM_198334.3:c.2427C>G, NM_198334.2:c.2427C>T, NM_198334.2:c.2427C>G, NM_001329224.2:c.1704C>T, NM_001329224.2:c.1704C>G, NM_001329224.1:c.1704C>T, NM_001329224.1:c.1704C>G, NM_001329222.2:c.2136C>T, NM_001329222.2:c.2136C>G, NM_001329222.1:c.2136C>T, NM_001329222.1:c.2136C>G, NM_001329225.2:c.1704C>T, NM_001329225.2:c.1704C>G, NM_001329225.1:c.1704C>T, NM_001329225.1:c.1704C>G, NM_001329223.2:c.2136C>T, NM_001329223.2:c.2136C>G, NM_001329223.1:c.2136C>T, NM_001329223.1:c.2136C>G, NM_001278194.2:c.2136C>T, NM_001278194.2:c.2136C>G, NM_001278194.1:c.2136C>T, NM_001278194.1:c.2136C>G, NM_001278192.2:c.2151C>T, NM_001278192.2:c.2151C>G, NM_001278192.1:c.2151C>T, NM_001278192.1:c.2151C>G, NM_001278193.2:c.2085C>T, NM_001278193.2:c.2085C>G, NM_001278193.1:c.2085C>T, NM_001278193.1:c.2085C>G, NG_031863.1:g.521C>T, NG_031863.1:g.521C>G, NM_014610.3:c.*215C>T, NM_014610.3:c.*215C>G, NM_014610.2:c.2493C>T, NM_014610.2:c.2493C>G, XM_047426649.1:c.2202C>T, XM_047426649.1:c.2202C>G, NM_014610.1:c.2427C>T, NM_014610.1:c.2427C>G, NP_938149.2:p.Ile831Met, NP_938148.1:p.Ile809Met, NP_001316153.1:p.Ile568Met, NP_001316151.1:p.Ile712Met, NP_001316154.1:p.Ile568Met, NP_001316152.1:p.Ile712Met, NP_001265123.1:p.Ile712Met, NP_001265121.1:p.Ile717Met, NP_001265122.1:p.Ile695Met, XP_047282605.1:p.Ile734Met

Select item 148045425211.

rs1480454252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62628803 (GRCh38)
11:62396275 (GRCh37)
Canonical SPDI:: NC_000011.10:62628802:A:G
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62628803A>G, NC_000011.9:g.62396275A>G, NG_053018.1:g.22924T>C, NM_198335.4:c.2212T>C, NM_198335.3:c.2212T>C, NM_198334.3:c.2146T>C, NM_198334.2:c.2146T>C, NM_001329224.2:c.1423T>C, NM_001329224.1:c.1423T>C, NM_001329222.2:c.1855T>C, NM_001329222.1:c.1855T>C, NM_001329225.2:c.1423T>C, NM_001329225.1:c.1423T>C, NM_001329223.2:c.1855T>C, NM_001329223.1:c.1855T>C, NM_001278194.2:c.1855T>C, NM_001278194.1:c.1855T>C, NM_001278192.2:c.1870T>C, NM_001278192.1:c.1870T>C, NM_001278193.2:c.1804T>C, NM_001278193.1:c.1804T>C, NM_014610.3:c.2212T>C, NM_014610.2:c.2212T>C, XM_047426649.1:c.1921T>C, NM_014610.1:c.2146T>C, NP_938149.2:p.Tyr738His, NP_938148.1:p.Tyr716His, NP_001316153.1:p.Tyr475His, NP_001316151.1:p.Tyr619His, NP_001316154.1:p.Tyr475His, NP_001316152.1:p.Tyr619His, NP_001265123.1:p.Tyr619His, NP_001265121.1:p.Tyr624His, NP_001265122.1:p.Tyr602His, XP_047282605.1:p.Tyr641His

Select item 148015954412.

rs1480159544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62634974 (GRCh38)
11:62402446 (GRCh37)
Canonical SPDI:: NC_000011.10:62634973:T:C
Gene:: GANAB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62634974T>C, NC_000011.9:g.62402446T>C, NG_053018.1:g.16753A>G, NM_198335.4:c.407A>G, NM_198335.3:c.407A>G, NM_198334.3:c.407A>G, NM_198334.2:c.407A>G, NM_001329224.2:c.-370A>G, NM_001329224.1:c.-370A>G, NM_001329222.2:c.116A>G, NM_001329222.1:c.116A>G, NM_001329225.2:c.-370A>G, NM_001329225.1:c.-370A>G, NM_001329223.2:c.116A>G, NM_001329223.1:c.116A>G, NM_001278194.2:c.116A>G, NM_001278194.1:c.116A>G, NM_001278192.2:c.65A>G, NM_001278192.1:c.65A>G, NM_001278193.2:c.65A>G, NM_001278193.1:c.65A>G, NM_014610.3:c.407A>G, NM_014610.2:c.407A>G, XM_047426649.1:c.116A>G, NM_014610.1:c.407A>G, NP_938149.2:p.Asn136Ser, NP_938148.1:p.Asn136Ser, NP_001316151.1:p.Asn39Ser, NP_001316152.1:p.Asn39Ser, NP_001265123.1:p.Asn39Ser, NP_001265121.1:p.Asn22Ser, NP_001265122.1:p.Asn22Ser, XP_047282605.1:p.Asn39Ser

Select item 147916013513.

rs1479160135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:62627082 (GRCh38)
11:62394554 (GRCh37)
Canonical SPDI:: NC_000011.10:62627081:T:C,NC_000011.10:62627081:T:G
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62627082T>C, NC_000011.10:g.62627082T>G, NC_000011.9:g.62394554T>C, NC_000011.9:g.62394554T>G, NG_053018.1:g.24645A>G, NG_053018.1:g.24645A>C, NM_198335.4:c.2354A>G, NM_198335.4:c.2354A>C, NM_198335.3:c.2354A>G, NM_198335.3:c.2354A>C, NM_198334.3:c.2288A>G, NM_198334.3:c.2288A>C, NM_198334.2:c.2288A>G, NM_198334.2:c.2288A>C, NM_001329224.2:c.1565A>G, NM_001329224.2:c.1565A>C, NM_001329224.1:c.1565A>G, NM_001329224.1:c.1565A>C, NM_001329222.2:c.1997A>G, NM_001329222.2:c.1997A>C, NM_001329222.1:c.1997A>G, NM_001329222.1:c.1997A>C, NM_001329225.2:c.1565A>G, NM_001329225.2:c.1565A>C, NM_001329225.1:c.1565A>G, NM_001329225.1:c.1565A>C, NM_001329223.2:c.1997A>G, NM_001329223.2:c.1997A>C, NM_001329223.1:c.1997A>G, NM_001329223.1:c.1997A>C, NM_001278194.2:c.1997A>G, NM_001278194.2:c.1997A>C, NM_001278194.1:c.1997A>G, NM_001278194.1:c.1997A>C, NM_001278192.2:c.2012A>G, NM_001278192.2:c.2012A>C, NM_001278192.1:c.2012A>G, NM_001278192.1:c.2012A>C, NM_001278193.2:c.1946A>G, NM_001278193.2:c.1946A>C, NM_001278193.1:c.1946A>G, NM_001278193.1:c.1946A>C, NG_031863.1:g.94A>G, NG_031863.1:g.94A>C, NM_014610.3:c.*76A>G, NM_014610.3:c.*76A>C, NM_014610.2:c.2354A>G, NM_014610.2:c.2354A>C, XM_047426649.1:c.2063A>G, XM_047426649.1:c.2063A>C, NM_014610.1:c.2288A>G, NM_014610.1:c.2288A>C, NP_938149.2:p.His785Arg, NP_938149.2:p.His785Pro, NP_938148.1:p.His763Arg, NP_938148.1:p.His763Pro, NP_001316153.1:p.His522Arg, NP_001316153.1:p.His522Pro, NP_001316151.1:p.His666Arg, NP_001316151.1:p.His666Pro, NP_001316154.1:p.His522Arg, NP_001316154.1:p.His522Pro, NP_001316152.1:p.His666Arg, NP_001316152.1:p.His666Pro, NP_001265123.1:p.His666Arg, NP_001265123.1:p.His666Pro, NP_001265121.1:p.His671Arg, NP_001265121.1:p.His671Pro, NP_001265122.1:p.His649Arg, NP_001265122.1:p.His649Pro, XP_047282605.1:p.His688Arg, XP_047282605.1:p.His688Pro

Select item 147591001314.

rs1475910013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62629592 (GRCh38)
11:62397064 (GRCh37)
Canonical SPDI:: NC_000011.10:62629591:G:A
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000032/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62629592G>A, NC_000011.9:g.62397064G>A, NG_053018.1:g.22135C>T, NM_198335.4:c.1896C>T, NM_198335.3:c.1896C>T, NM_198334.3:c.1830C>T, NM_198334.2:c.1830C>T, NM_001329224.2:c.1107C>T, NM_001329224.1:c.1107C>T, NM_001329222.2:c.1539C>T, NM_001329222.1:c.1539C>T, NM_001329225.2:c.1107C>T, NM_001329225.1:c.1107C>T, NM_001329223.2:c.1539C>T, NM_001329223.1:c.1539C>T, NM_001278194.2:c.1539C>T, NM_001278194.1:c.1539C>T, NM_001278192.2:c.1554C>T, NM_001278192.1:c.1554C>T, NM_001278193.2:c.1488C>T, NM_001278193.1:c.1488C>T, NM_014610.3:c.1896C>T, NM_014610.2:c.1896C>T, XM_047426649.1:c.1605C>T, NM_014610.1:c.1830C>T

Select item 147226965515.

rs1472269655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62629882 (GRCh38)
11:62397354 (GRCh37)
Canonical SPDI:: NC_000011.10:62629881:G:A,NC_000011.10:62629881:G:C
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62629882G>A, NC_000011.10:g.62629882G>C, NC_000011.9:g.62397354G>A, NC_000011.9:g.62397354G>C, NG_053018.1:g.21845C>T, NG_053018.1:g.21845C>G, NM_198335.4:c.1735C>T, NM_198335.4:c.1735C>G, NM_198335.3:c.1735C>T, NM_198335.3:c.1735C>G, NM_198334.3:c.1669C>T, NM_198334.3:c.1669C>G, NM_198334.2:c.1669C>T, NM_198334.2:c.1669C>G, NM_001329224.2:c.946C>T, NM_001329224.2:c.946C>G, NM_001329224.1:c.946C>T, NM_001329224.1:c.946C>G, NM_001329222.2:c.1378C>T, NM_001329222.2:c.1378C>G, NM_001329222.1:c.1378C>T, NM_001329222.1:c.1378C>G, NM_001329225.2:c.946C>T, NM_001329225.2:c.946C>G, NM_001329225.1:c.946C>T, NM_001329225.1:c.946C>G, NM_001329223.2:c.1378C>T, NM_001329223.2:c.1378C>G, NM_001329223.1:c.1378C>T, NM_001329223.1:c.1378C>G, NM_001278194.2:c.1378C>T, NM_001278194.2:c.1378C>G, NM_001278194.1:c.1378C>T, NM_001278194.1:c.1378C>G, NM_001278192.2:c.1393C>T, NM_001278192.2:c.1393C>G, NM_001278192.1:c.1393C>T, NM_001278192.1:c.1393C>G, NM_001278193.2:c.1327C>T, NM_001278193.2:c.1327C>G, NM_001278193.1:c.1327C>T, NM_001278193.1:c.1327C>G, NM_014610.3:c.1735C>T, NM_014610.3:c.1735C>G, NM_014610.2:c.1735C>T, NM_014610.2:c.1735C>G, XM_047426649.1:c.1444C>T, XM_047426649.1:c.1444C>G, NM_014610.1:c.1669C>T, NM_014610.1:c.1669C>G, NP_938149.2:p.Leu579Phe, NP_938149.2:p.Leu579Val, NP_938148.1:p.Leu557Phe, NP_938148.1:p.Leu557Val, NP_001316153.1:p.Leu316Phe, NP_001316153.1:p.Leu316Val, NP_001316151.1:p.Leu460Phe, NP_001316151.1:p.Leu460Val, NP_001316154.1:p.Leu316Phe, NP_001316154.1:p.Leu316Val, NP_001316152.1:p.Leu460Phe, NP_001316152.1:p.Leu460Val, NP_001265123.1:p.Leu460Phe, NP_001265123.1:p.Leu460Val, NP_001265121.1:p.Leu465Phe, NP_001265121.1:p.Leu465Val, NP_001265122.1:p.Leu443Phe, NP_001265122.1:p.Leu443Val, XP_047282605.1:p.Leu482Phe, XP_047282605.1:p.Leu482Val

Select item 147215853916.

rs1472158539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62630677 (GRCh38)
11:62398149 (GRCh37)
Canonical SPDI:: NC_000011.10:62630676:C:T
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62630677C>T, NC_000011.9:g.62398149C>T, NG_053018.1:g.21050G>A, NM_198335.4:c.1376G>A, NM_198335.3:c.1376G>A, NM_198334.3:c.1310G>A, NM_198334.2:c.1310G>A, NM_001329224.2:c.587G>A, NM_001329224.1:c.587G>A, NM_001329222.2:c.1019G>A, NM_001329222.1:c.1019G>A, NM_001329225.2:c.587G>A, NM_001329225.1:c.587G>A, NM_001329223.2:c.1019G>A, NM_001329223.1:c.1019G>A, NM_001278194.2:c.1019G>A, NM_001278194.1:c.1019G>A, NM_001278192.2:c.1034G>A, NM_001278192.1:c.1034G>A, NM_001278193.2:c.968G>A, NM_001278193.1:c.968G>A, NM_014610.3:c.1376G>A, NM_014610.2:c.1376G>A, XM_047426649.1:c.1085G>A, NM_014610.1:c.1310G>A, NP_938149.2:p.Arg459Gln, NP_938148.1:p.Arg437Gln, NP_001316153.1:p.Arg196Gln, NP_001316151.1:p.Arg340Gln, NP_001316154.1:p.Arg196Gln, NP_001316152.1:p.Arg340Gln, NP_001265123.1:p.Arg340Gln, NP_001265121.1:p.Arg345Gln, NP_001265122.1:p.Arg323Gln, XP_047282605.1:p.Arg362Gln

Select item 147115856417.

rs1471158564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62633472 (GRCh38)
11:62400944 (GRCh37)
Canonical SPDI:: NC_000011.10:62633471:A:G
Gene:: GANAB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62633472A>G, NC_000011.9:g.62400944A>G, NG_053018.1:g.18255T>C, NM_198335.4:c.669T>C, NM_198335.3:c.669T>C, NM_198334.3:c.603T>C, NM_198334.2:c.603T>C, NM_001329224.2:c.-121T>C, NM_001329224.1:c.-121T>C, NM_001329222.2:c.312T>C, NM_001329222.1:c.312T>C, NM_001329225.2:c.-121T>C, NM_001329225.1:c.-121T>C, NM_001329223.2:c.312T>C, NM_001329223.1:c.312T>C, NM_001278194.2:c.312T>C, NM_001278194.1:c.312T>C, NM_001278192.2:c.327T>C, NM_001278192.1:c.327T>C, NM_001278193.2:c.261T>C, NM_001278193.1:c.261T>C, NM_014610.3:c.669T>C, NM_014610.2:c.669T>C, XM_047426649.1:c.378T>C, NM_014610.1:c.603T>C

Select item 146982700818.

rs1469827008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62632613 (GRCh38)
11:62400085 (GRCh37)
Canonical SPDI:: NC_000011.10:62632612:G:C
Gene:: GANAB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.62632613G>C, NC_000011.9:g.62400085G>C, NG_053018.1:g.19114C>G, NM_198335.4:c.1014C>G, NM_198335.3:c.1014C>G, NM_198334.3:c.948C>G, NM_198334.2:c.948C>G, NM_001329224.2:c.225C>G, NM_001329224.1:c.225C>G, NM_001329222.2:c.657C>G, NM_001329222.1:c.657C>G, NM_001329225.2:c.225C>G, NM_001329225.1:c.225C>G, NM_001329223.2:c.657C>G, NM_001329223.1:c.657C>G, NM_001278194.2:c.657C>G, NM_001278194.1:c.657C>G, NM_001278192.2:c.672C>G, NM_001278192.1:c.672C>G, NM_001278193.2:c.606C>G, NM_001278193.1:c.606C>G, NM_014610.3:c.1014C>G, NM_014610.2:c.1014C>G, XM_047426649.1:c.723C>G, NM_014610.1:c.948C>G

Select item 146716684519.

rs1467166845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62626666 (GRCh38)
11:62394138 (GRCh37)
Canonical SPDI:: NC_000011.10:62626665:C:T
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.62626666C>T, NC_000011.9:g.62394138C>T, NG_053018.1:g.25061G>A, NM_198335.4:c.2482G>A, NM_198335.3:c.2482G>A, NM_198334.3:c.2416G>A, NM_198334.2:c.2416G>A, NM_001329224.2:c.1693G>A, NM_001329224.1:c.1693G>A, NM_001329222.2:c.2125G>A, NM_001329222.1:c.2125G>A, NM_001329225.2:c.1693G>A, NM_001329225.1:c.1693G>A, NM_001329223.2:c.2125G>A, NM_001329223.1:c.2125G>A, NM_001278194.2:c.2125G>A, NM_001278194.1:c.2125G>A, NM_001278192.2:c.2140G>A, NM_001278192.1:c.2140G>A, NM_001278193.2:c.2074G>A, NM_001278193.1:c.2074G>A, NG_031863.1:g.510G>A, NM_014610.3:c.*204G>A, NM_014610.2:c.2482G>A, XM_047426649.1:c.2191G>A, NM_014610.1:c.2416G>A, NP_938149.2:p.Gly828Arg, NP_938148.1:p.Gly806Arg, NP_001316153.1:p.Gly565Arg, NP_001316151.1:p.Gly709Arg, NP_001316154.1:p.Gly565Arg, NP_001316152.1:p.Gly709Arg, NP_001265123.1:p.Gly709Arg, NP_001265121.1:p.Gly714Arg, NP_001265122.1:p.Gly692Arg, XP_047282605.1:p.Gly731Arg

Select item 146601702520.

rs1466017025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62633270 (GRCh38)
11:62400742 (GRCh37)
Canonical SPDI:: NC_000011.10:62633269:G:A
Gene:: GANAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000685/2 (KOREAN)
HGVS:: NC_000011.10:g.62633270G>A, NC_000011.9:g.62400742G>A, NG_053018.1:g.18457C>T, NM_198335.4:c.698C>T, NM_198335.3:c.698C>T, NM_198334.3:c.632C>T, NM_198334.2:c.632C>T, NM_001329224.2:c.-92C>T, NM_001329224.1:c.-92C>T, NM_001329222.2:c.341C>T, NM_001329222.1:c.341C>T, NM_001329225.2:c.-92C>T, NM_001329225.1:c.-92C>T, NM_001329223.2:c.341C>T, NM_001329223.1:c.341C>T, NM_001278194.2:c.341C>T, NM_001278194.1:c.341C>T, NM_001278192.2:c.356C>T, NM_001278192.1:c.356C>T, NM_001278193.2:c.290C>T, NM_001278193.1:c.290C>T, NM_014610.3:c.698C>T, NM_014610.2:c.698C>T, XM_047426649.1:c.407C>T, NM_014610.1:c.632C>T, NP_938149.2:p.Pro233Leu, NP_938148.1:p.Pro211Leu, NP_001316151.1:p.Pro114Leu, NP_001316152.1:p.Pro114Leu, NP_001265123.1:p.Pro114Leu, NP_001265121.1:p.Pro119Leu, NP_001265122.1:p.Pro97Leu, XP_047282605.1:p.Pro136Leu

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