SNP Links for Protein (Select 49355778) - SNP

Select item 14907027561.

rs1490702756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:7580017 (GRCh38)
10:7621980 (GRCh37)
Canonical SPDI:: NC_000010.11:7580016:T:C
Gene:: ITIH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.7580017T>C, NC_000010.10:g.7621980T>C, NG_047199.1:g.91982A>G, NM_030569.7:c.1156A>G, NM_030569.6:c.1156A>G, NM_032817.6:c.514A>G, NM_032817.5:c.514A>G, NM_001001851.3:c.1156A>G, NM_001001851.2:c.1156A>G, XM_011519713.4:c.1231A>G, XM_011519713.3:c.1231A>G, XM_011519713.2:c.1231A>G, XM_011519713.1:c.1231A>G, XM_011519714.4:c.1231A>G, XM_011519714.3:c.1231A>G, XM_011519714.2:c.1231A>G, XM_011519714.1:c.1231A>G, NP_085046.5:p.Lys386Glu, NP_116206.4:p.Lys172Glu, NP_001001851.1:p.Lys386Glu, XP_011518015.1:p.Lys411Glu, XP_011518016.1:p.Lys411Glu

Select item 14887506112.

rs1488750611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:7585992 (GRCh38)
10:7627955 (GRCh37)
Canonical SPDI:: NC_000010.11:7585991:C:A
Gene:: ITIH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.7585992C>A, NC_000010.10:g.7627955C>A, NG_047199.1:g.86007G>T, NM_030569.7:c.1017G>T, NM_030569.6:c.1017G>T, NM_032817.6:c.375G>T, NM_032817.5:c.375G>T, NM_001001851.3:c.1017G>T, NM_001001851.2:c.1017G>T, XM_011519713.4:c.1092G>T, XM_011519713.3:c.1092G>T, XM_011519713.2:c.1092G>T, XM_011519713.1:c.1092G>T, XM_011519714.4:c.1092G>T, XM_011519714.3:c.1092G>T, XM_011519714.2:c.1092G>T, XM_011519714.1:c.1092G>T

Select item 14864325433.

rs1486432543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:7576475 (GRCh38)
10:7618438 (GRCh37)
Canonical SPDI:: NC_000010.11:7576474:C:T
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.7576475C>T, NC_000010.10:g.7618438C>T, NG_047199.1:g.95524G>A, NM_030569.7:c.1956G>A, NM_030569.6:c.1956G>A, NM_032817.6:c.1314G>A, NM_032817.5:c.1314G>A, NM_001001851.3:c.1956G>A, NM_001001851.2:c.1956G>A, XM_011519713.4:c.2031G>A, XM_011519713.3:c.2031G>A, XM_011519713.2:c.2031G>A, XM_011519713.1:c.2031G>A, XM_011519714.4:c.2031G>A, XM_011519714.3:c.2031G>A, XM_011519714.2:c.2031G>A, XM_011519714.1:c.2031G>A

Select item 14843927684.

rs1484392768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:7579996 (GRCh38)
10:7621959 (GRCh37)
Canonical SPDI:: NC_000010.11:7579995:T:C
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.7579996T>C, NC_000010.10:g.7621959T>C, NG_047199.1:g.92003A>G, NM_030569.7:c.1177A>G, NM_030569.6:c.1177A>G, NM_032817.6:c.535A>G, NM_032817.5:c.535A>G, NM_001001851.3:c.1177A>G, NM_001001851.2:c.1177A>G, XM_011519713.4:c.1252A>G, XM_011519713.3:c.1252A>G, XM_011519713.2:c.1252A>G, XM_011519713.1:c.1252A>G, XM_011519714.4:c.1252A>G, XM_011519714.3:c.1252A>G, XM_011519714.2:c.1252A>G, XM_011519714.1:c.1252A>G, NP_085046.5:p.Ile393Val, NP_116206.4:p.Ile179Val, NP_001001851.1:p.Ile393Val, XP_011518015.1:p.Ile418Val, XP_011518016.1:p.Ile418Val

Select item 14827155905.

rs1482715590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:7576998 (GRCh38)
10:7618961 (GRCh37)
Canonical SPDI:: NC_000010.11:7576997:A:C
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.7576998A>C, NC_000010.10:g.7618961A>C, NG_047199.1:g.95001T>G, NM_030569.7:c.1433T>G, NM_030569.6:c.1433T>G, NM_032817.6:c.791T>G, NM_032817.5:c.791T>G, NM_001001851.3:c.1433T>G, NM_001001851.2:c.1433T>G, XM_011519713.4:c.1508T>G, XM_011519713.3:c.1508T>G, XM_011519713.2:c.1508T>G, XM_011519713.1:c.1508T>G, XM_011519714.4:c.1508T>G, XM_011519714.3:c.1508T>G, XM_011519714.2:c.1508T>G, XM_011519714.1:c.1508T>G, NP_085046.5:p.Ile478Ser, NP_116206.4:p.Ile264Ser, NP_001001851.1:p.Ile478Ser, XP_011518015.1:p.Ile503Ser, XP_011518016.1:p.Ile503Ser

Select item 14811945476.

rs1481194547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:7579928 (GRCh38)
10:7621891 (GRCh37)
Canonical SPDI:: NC_000010.11:7579927:G:A,NC_000010.11:7579927:G:C,NC_000010.11:7579927:G:T
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000010.11:g.7579928G>A, NC_000010.11:g.7579928G>C, NC_000010.11:g.7579928G>T, NC_000010.10:g.7621891G>A, NC_000010.10:g.7621891G>C, NC_000010.10:g.7621891G>T, NG_047199.1:g.92071C>T, NG_047199.1:g.92071C>G, NG_047199.1:g.92071C>A, NM_030569.7:c.1245C>T, NM_030569.7:c.1245C>G, NM_030569.7:c.1245C>A, NM_030569.6:c.1245C>T, NM_030569.6:c.1245C>G, NM_030569.6:c.1245C>A, NM_032817.6:c.603C>T, NM_032817.6:c.603C>G, NM_032817.6:c.603C>A, NM_032817.5:c.603C>T, NM_032817.5:c.603C>G, NM_032817.5:c.603C>A, NM_001001851.3:c.1245C>T, NM_001001851.3:c.1245C>G, NM_001001851.3:c.1245C>A, NM_001001851.2:c.1245C>T, NM_001001851.2:c.1245C>G, NM_001001851.2:c.1245C>A, XM_011519713.4:c.1320C>T, XM_011519713.4:c.1320C>G, XM_011519713.4:c.1320C>A, XM_011519713.3:c.1320C>T, XM_011519713.3:c.1320C>G, XM_011519713.3:c.1320C>A, XM_011519713.2:c.1320C>T, XM_011519713.2:c.1320C>G, XM_011519713.2:c.1320C>A, XM_011519713.1:c.1320C>T, XM_011519713.1:c.1320C>G, XM_011519713.1:c.1320C>A, XM_011519714.4:c.1320C>T, XM_011519714.4:c.1320C>G, XM_011519714.4:c.1320C>A, XM_011519714.3:c.1320C>T, XM_011519714.3:c.1320C>G, XM_011519714.3:c.1320C>A, XM_011519714.2:c.1320C>T, XM_011519714.2:c.1320C>G, XM_011519714.2:c.1320C>A, XM_011519714.1:c.1320C>T, XM_011519714.1:c.1320C>G, XM_011519714.1:c.1320C>A, NP_085046.5:p.His415Gln, NP_085046.5:p.His415Gln, NP_116206.4:p.His201Gln, NP_116206.4:p.His201Gln, NP_001001851.1:p.His415Gln, NP_001001851.1:p.His415Gln, XP_011518015.1:p.His440Gln, XP_011518015.1:p.His440Gln, XP_011518016.1:p.His440Gln, XP_011518016.1:p.His440Gln

Select item 14769469687.

rs1476946968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:7666864 (GRCh38)
10:7708827 (GRCh37)
Canonical SPDI:: NC_000010.11:7666863:C:A
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.7666864C>A, NC_000010.10:g.7708827C>A, NG_047199.1:g.5135G>T, NM_030569.7:c.29G>T, NM_030569.6:c.29G>T, NM_001001851.3:c.29G>T, NM_001001851.2:c.29G>T, XM_011519713.4:c.29G>T, XM_011519713.3:c.29G>T, XM_011519713.2:c.29G>T, XM_011519713.1:c.29G>T, XM_011519714.4:c.29G>T, XM_011519714.3:c.29G>T, XM_011519714.2:c.29G>T, XM_011519714.1:c.29G>T, NP_085046.5:p.Gly10Val, NP_001001851.1:p.Gly10Val, XP_011518015.1:p.Gly10Val, XP_011518016.1:p.Gly10Val

Select item 14768787068.

rs1476878706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:7576744 (GRCh38)
10:7618707 (GRCh37)
Canonical SPDI:: NC_000010.11:7576743:C:T
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.7576744C>T, NC_000010.10:g.7618707C>T, NG_047199.1:g.95255G>A, NM_030569.7:c.1687G>A, NM_030569.6:c.1687G>A, NM_032817.6:c.1045G>A, NM_032817.5:c.1045G>A, NM_001001851.3:c.1687G>A, NM_001001851.2:c.1687G>A, XM_011519713.4:c.1762G>A, XM_011519713.3:c.1762G>A, XM_011519713.2:c.1762G>A, XM_011519713.1:c.1762G>A, XM_011519714.4:c.1762G>A, XM_011519714.3:c.1762G>A, XM_011519714.2:c.1762G>A, XM_011519714.1:c.1762G>A, NP_085046.5:p.Gly563Arg, NP_116206.4:p.Gly349Arg, NP_001001851.1:p.Gly563Arg, XP_011518015.1:p.Gly588Arg, XP_011518016.1:p.Gly588Arg

Select item 14766223959.

rs1476622395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:7637255 (GRCh38)
10:7679218 (GRCh37)
Canonical SPDI:: NC_000010.11:7637254:T:A,NC_000010.11:7637254:T:C
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.7637255T>A, NC_000010.11:g.7637255T>C, NC_000010.10:g.7679218T>A, NC_000010.10:g.7679218T>C, NG_047199.1:g.34744A>T, NG_047199.1:g.34744A>G, NM_030569.7:c.625A>T, NM_030569.7:c.625A>G, NM_030569.6:c.625A>T, NM_030569.6:c.625A>G, NM_001001851.3:c.625A>T, NM_001001851.3:c.625A>G, NM_001001851.2:c.625A>T, NM_001001851.2:c.625A>G, XM_011519713.4:c.625A>T, XM_011519713.4:c.625A>G, XM_011519713.3:c.625A>T, XM_011519713.3:c.625A>G, XM_011519713.2:c.625A>T, XM_011519713.2:c.625A>G, XM_011519713.1:c.625A>T, XM_011519713.1:c.625A>G, XM_011519714.4:c.625A>T, XM_011519714.4:c.625A>G, XM_011519714.3:c.625A>T, XM_011519714.3:c.625A>G, XM_011519714.2:c.625A>T, XM_011519714.2:c.625A>G, XM_011519714.1:c.625A>T, XM_011519714.1:c.625A>G, NP_085046.5:p.Arg209Trp, NP_085046.5:p.Arg209Gly, NP_001001851.1:p.Arg209Trp, NP_001001851.1:p.Arg209Gly, XP_011518015.1:p.Arg209Trp, XP_011518015.1:p.Arg209Gly, XP_011518016.1:p.Arg209Trp, XP_011518016.1:p.Arg209Gly

Select item 147645920010.

rs1476459200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:7616074 (GRCh38)
10:7658037 (GRCh37)
Canonical SPDI:: NC_000010.11:7616073:A:G
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.7616074A>G, NC_000010.10:g.7658037A>G, NG_047199.1:g.55925T>C, NM_030569.7:c.847T>C, NM_030569.6:c.847T>C, NM_032817.6:c.205T>C, NM_032817.5:c.205T>C, NM_001001851.3:c.847T>C, NM_001001851.2:c.847T>C, XM_011519713.4:c.847T>C, XM_011519713.3:c.847T>C, XM_011519713.2:c.847T>C, XM_011519713.1:c.847T>C, XM_011519714.4:c.847T>C, XM_011519714.3:c.847T>C, XM_011519714.2:c.847T>C, XM_011519714.1:c.847T>C, NP_085046.5:p.Tyr283His, NP_116206.4:p.Tyr69His, NP_001001851.1:p.Tyr283His, XP_011518015.1:p.Tyr283His, XP_011518016.1:p.Tyr283His

Select item 147594010611.

rs1475940106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:7576801 (GRCh38)
10:7618764 (GRCh37)
Canonical SPDI:: NC_000010.11:7576800:C:T
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.7576801C>T, NC_000010.10:g.7618764C>T, NG_047199.1:g.95198G>A, NM_030569.7:c.1630G>A, NM_030569.6:c.1630G>A, NM_032817.6:c.988G>A, NM_032817.5:c.988G>A, NM_001001851.3:c.1630G>A, NM_001001851.2:c.1630G>A, XM_011519713.4:c.1705G>A, XM_011519713.3:c.1705G>A, XM_011519713.2:c.1705G>A, XM_011519713.1:c.1705G>A, XM_011519714.4:c.1705G>A, XM_011519714.3:c.1705G>A, XM_011519714.2:c.1705G>A, XM_011519714.1:c.1705G>A, NP_085046.5:p.Asp544Asn, NP_116206.4:p.Asp330Asn, NP_001001851.1:p.Asp544Asn, XP_011518015.1:p.Asp569Asn, XP_011518016.1:p.Asp569Asn

Select item 147489281412.

rs1474892814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:7579889 (GRCh38)
10:7621852 (GRCh37)
Canonical SPDI:: NC_000010.11:7579888:T:C
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.7579889T>C, NC_000010.10:g.7621852T>C, NG_047199.1:g.92110A>G, NM_030569.7:c.1284A>G, NM_030569.6:c.1284A>G, NM_032817.6:c.642A>G, NM_032817.5:c.642A>G, NM_001001851.3:c.1284A>G, NM_001001851.2:c.1284A>G, XM_011519713.4:c.1359A>G, XM_011519713.3:c.1359A>G, XM_011519713.2:c.1359A>G, XM_011519713.1:c.1359A>G, XM_011519714.4:c.1359A>G, XM_011519714.3:c.1359A>G, XM_011519714.2:c.1359A>G, XM_011519714.1:c.1359A>G

Select item 147460271513.

rs1474602715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:7641995 (GRCh38)
10:7683958 (GRCh37)
Canonical SPDI:: NC_000010.11:7641994:A:G
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.7641995A>G, NC_000010.10:g.7683958A>G, NG_047199.1:g.30004T>C, NM_030569.7:c.231T>C, NM_030569.6:c.231T>C, NM_001001851.3:c.231T>C, NM_001001851.2:c.231T>C, XM_011519713.4:c.231T>C, XM_011519713.3:c.231T>C, XM_011519713.2:c.231T>C, XM_011519713.1:c.231T>C, XM_011519714.4:c.231T>C, XM_011519714.3:c.231T>C, XM_011519714.2:c.231T>C, XM_011519714.1:c.231T>C

Select item 147397810514.

rs1473978105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:7579946 (GRCh38)
10:7621909 (GRCh37)
Canonical SPDI:: NC_000010.11:7579945:G:A
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.7579946G>A, NC_000010.10:g.7621909G>A, NG_047199.1:g.92053C>T, NM_030569.7:c.1227C>T, NM_030569.6:c.1227C>T, NM_032817.6:c.585C>T, NM_032817.5:c.585C>T, NM_001001851.3:c.1227C>T, NM_001001851.2:c.1227C>T, XM_011519713.4:c.1302C>T, XM_011519713.3:c.1302C>T, XM_011519713.2:c.1302C>T, XM_011519713.1:c.1302C>T, XM_011519714.4:c.1302C>T, XM_011519714.3:c.1302C>T, XM_011519714.2:c.1302C>T, XM_011519714.1:c.1302C>T

Select item 147355048915.

rs1473550489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:7573157 (GRCh38)
10:7615120 (GRCh37)
Canonical SPDI:: NC_000010.11:7573156:T:G
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.7573157T>G, NC_000010.10:g.7615120T>G, NG_047199.1:g.98842A>C, NM_030569.7:c.2017A>C, NM_030569.6:c.2017A>C, NM_032817.6:c.1375A>C, NM_032817.5:c.1375A>C, NM_001001851.3:c.2017A>C, NM_001001851.2:c.2017A>C, XM_011519713.4:c.2092A>C, XM_011519713.3:c.2092A>C, XM_011519713.2:c.2092A>C, XM_011519713.1:c.2092A>C, XM_011519714.4:c.2092A>C, XM_011519714.3:c.2092A>C, XM_011519714.2:c.2092A>C, XM_011519714.1:c.2092A>C, NP_085046.5:p.Ile673Leu, NP_116206.4:p.Ile459Leu, NP_001001851.1:p.Ile673Leu, XP_011518015.1:p.Ile698Leu, XP_011518016.1:p.Ile698Leu

Select item 147070528616.

rs1470705286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:7641983 (GRCh38)
10:7683946 (GRCh37)
Canonical SPDI:: NC_000010.11:7641982:C:T
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.7641983C>T, NC_000010.10:g.7683946C>T, NG_047199.1:g.30016G>A, NM_030569.7:c.243G>A, NM_030569.6:c.243G>A, NM_001001851.3:c.243G>A, NM_001001851.2:c.243G>A, XM_011519713.4:c.243G>A, XM_011519713.3:c.243G>A, XM_011519713.2:c.243G>A, XM_011519713.1:c.243G>A, XM_011519714.4:c.243G>A, XM_011519714.3:c.243G>A, XM_011519714.2:c.243G>A, XM_011519714.1:c.243G>A

Select item 147019037717.

rs1470190377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:7576467 (GRCh38)
10:7618430 (GRCh37)
Canonical SPDI:: NC_000010.11:7576466:G:C
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000029/1 (ALFA)
C=0.000009/2 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.7576467G>C, NC_000010.10:g.7618430G>C, NG_047199.1:g.95532C>G, NM_030569.7:c.1964C>G, NM_030569.6:c.1964C>G, NM_032817.6:c.1322C>G, NM_032817.5:c.1322C>G, NM_001001851.3:c.1964C>G, NM_001001851.2:c.1964C>G, XM_011519713.4:c.2039C>G, XM_011519713.3:c.2039C>G, XM_011519713.2:c.2039C>G, XM_011519713.1:c.2039C>G, XM_011519714.4:c.2039C>G, XM_011519714.3:c.2039C>G, XM_011519714.2:c.2039C>G, XM_011519714.1:c.2039C>G, NP_085046.5:p.Ala655Gly, NP_116206.4:p.Ala441Gly, NP_001001851.1:p.Ala655Gly, XP_011518015.1:p.Ala680Gly, XP_011518016.1:p.Ala680Gly

Select item 146998026618.

rs1469980266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:7580012 (GRCh38)
10:7621975 (GRCh37)
Canonical SPDI:: NC_000010.11:7580011:G:A,NC_000010.11:7580011:G:C
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000010.11:g.7580012G>A, NC_000010.11:g.7580012G>C, NC_000010.10:g.7621975G>A, NC_000010.10:g.7621975G>C, NG_047199.1:g.91987C>T, NG_047199.1:g.91987C>G, NM_030569.7:c.1161C>T, NM_030569.7:c.1161C>G, NM_030569.6:c.1161C>T, NM_030569.6:c.1161C>G, NM_032817.6:c.519C>T, NM_032817.6:c.519C>G, NM_032817.5:c.519C>T, NM_032817.5:c.519C>G, NM_001001851.3:c.1161C>T, NM_001001851.3:c.1161C>G, NM_001001851.2:c.1161C>T, NM_001001851.2:c.1161C>G, XM_011519713.4:c.1236C>T, XM_011519713.4:c.1236C>G, XM_011519713.3:c.1236C>T, XM_011519713.3:c.1236C>G, XM_011519713.2:c.1236C>T, XM_011519713.2:c.1236C>G, XM_011519713.1:c.1236C>T, XM_011519713.1:c.1236C>G, XM_011519714.4:c.1236C>T, XM_011519714.4:c.1236C>G, XM_011519714.3:c.1236C>T, XM_011519714.3:c.1236C>G, XM_011519714.2:c.1236C>T, XM_011519714.2:c.1236C>G, XM_011519714.1:c.1236C>T, XM_011519714.1:c.1236C>G, NP_085046.5:p.Tyr387Ter, NP_116206.4:p.Tyr173Ter, NP_001001851.1:p.Tyr387Ter, XP_011518015.1:p.Tyr412Ter, XP_011518016.1:p.Tyr412Ter

Select item 146768494419.

rs1467684944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:7580057 (GRCh38)
10:7622020 (GRCh37)
Canonical SPDI:: NC_000010.11:7580056:G:A
Gene:: ITIH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.7580057G>A, NC_000010.10:g.7622020G>A, NG_047199.1:g.91942C>T, NM_030569.7:c.1116C>T, NM_030569.6:c.1116C>T, NM_032817.6:c.474C>T, NM_032817.5:c.474C>T, NM_001001851.3:c.1116C>T, NM_001001851.2:c.1116C>T, XM_011519713.4:c.1191C>T, XM_011519713.3:c.1191C>T, XM_011519713.2:c.1191C>T, XM_011519713.1:c.1191C>T, XM_011519714.4:c.1191C>T, XM_011519714.3:c.1191C>T, XM_011519714.2:c.1191C>T, XM_011519714.1:c.1191C>T

Select item 146759320420.

rs1467593204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:7579894 (GRCh38)
10:7621857 (GRCh37)
Canonical SPDI:: NC_000010.11:7579893:C:T
Gene:: ITIH5 (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=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.7579894C>T, NC_000010.10:g.7621857C>T, NG_047199.1:g.92105G>A, NM_030569.7:c.1279G>A, NM_030569.6:c.1279G>A, NM_032817.6:c.637G>A, NM_032817.5:c.637G>A, NM_001001851.3:c.1279G>A, NM_001001851.2:c.1279G>A, XM_011519713.4:c.1354G>A, XM_011519713.3:c.1354G>A, XM_011519713.2:c.1354G>A, XM_011519713.1:c.1354G>A, XM_011519714.4:c.1354G>A, XM_011519714.3:c.1354G>A, XM_011519714.2:c.1354G>A, XM_011519714.1:c.1354G>A, NP_085046.5:p.Ala427Thr, NP_116206.4:p.Ala213Thr, NP_001001851.1:p.Ala427Thr, XP_011518015.1:p.Ala452Thr, XP_011518016.1:p.Ala452Thr

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Result Filters

Clinical Significance

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Items: 1 to 20 of 832

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