SNP Links for Protein (Select 1034651258) - SNP

Links from Protein

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Select item 14859271471.

rs1485927147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:112100726 (GRCh38)
6:112421929 (GRCh37)
Canonical SPDI:: NC_000006.12:112100725:C:G
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.112100726C>G, NW_003871062.1:g.98248C>G, NC_000006.11:g.112421929C>G, NM_001033564.3:c.182C>G, NM_001033564.2:c.182C>G, NM_001033564.1:c.182C>G, XM_017011174.3:c.182C>G, XM_017011174.2:c.182C>G, XM_017011174.1:c.182C>G, XM_017011175.3:c.182C>G, XM_017011175.2:c.182C>G, XM_017011175.1:c.182C>G, NP_001028736.1:p.Thr61Ser, XP_016866663.1:p.Thr61Ser, XP_016866664.1:p.Thr61Ser

Select item 14526646582.

rs1452664658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:112099352 (GRCh38)
6:112420555 (GRCh37)
Canonical SPDI:: NC_000006.12:112099351:G:A,NC_000006.12:112099351:G:C
Gene:: FAM229B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.112099352G>A, NC_000006.12:g.112099352G>C, NW_003871062.1:g.96874G>A, NW_003871062.1:g.96874G>C, NC_000006.11:g.112420555G>A, NC_000006.11:g.112420555G>C, NM_001033564.3:c.69G>A, NM_001033564.3:c.69G>C, NM_001033564.2:c.69G>A, NM_001033564.2:c.69G>C, NM_001033564.1:c.69G>A, NM_001033564.1:c.69G>C, XM_017011174.3:c.69G>A, XM_017011174.3:c.69G>C, XM_017011174.2:c.69G>A, XM_017011174.2:c.69G>C, XM_017011174.1:c.69G>A, XM_017011174.1:c.69G>C, XM_017011175.3:c.69G>A, XM_017011175.3:c.69G>C, XM_017011175.2:c.69G>A, XM_017011175.2:c.69G>C, XM_017011175.1:c.69G>A, XM_017011175.1:c.69G>C

Select item 14514407143.

rs1451440714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:112099376 (GRCh38)
6:112420579 (GRCh37)
Canonical SPDI:: NC_000006.12:112099375:T:C
Gene:: FAM229B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.112099376T>C, NW_003871062.1:g.96898T>C, NC_000006.11:g.112420579T>C, NM_001033564.3:c.93T>C, NM_001033564.2:c.93T>C, NM_001033564.1:c.93T>C, XM_017011174.3:c.93T>C, XM_017011174.2:c.93T>C, XM_017011174.1:c.93T>C, XM_017011175.3:c.93T>C, XM_017011175.2:c.93T>C, XM_017011175.1:c.93T>C

Select item 14159216154.

rs1415921615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:112100678 (GRCh38)
6:112421881 (GRCh37)
Canonical SPDI:: NC_000006.12:112100677:G:A
Gene:: FAM229B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.112100678G>A, NW_003871062.1:g.98200G>A, NC_000006.11:g.112421881G>A, NM_001033564.3:c.134G>A, NM_001033564.2:c.134G>A, NM_001033564.1:c.134G>A, XM_017011174.3:c.134G>A, XM_017011174.2:c.134G>A, XM_017011174.1:c.134G>A, XM_017011175.3:c.134G>A, XM_017011175.2:c.134G>A, XM_017011175.1:c.134G>A, NP_001028736.1:p.Arg45Gln, XP_016866663.1:p.Arg45Gln, XP_016866664.1:p.Arg45Gln

Select item 13903056365.

rs1390305636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:112099332 (GRCh38)
6:112420535 (GRCh37)
Canonical SPDI:: NC_000006.12:112099331:G:A
Gene:: FAM229B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.112099332G>A, NW_003871062.1:g.96854G>A, NC_000006.11:g.112420535G>A, NM_001033564.3:c.49G>A, NM_001033564.2:c.49G>A, NM_001033564.1:c.49G>A, XM_017011174.3:c.49G>A, XM_017011174.2:c.49G>A, XM_017011174.1:c.49G>A, XM_017011175.3:c.49G>A, XM_017011175.2:c.49G>A, XM_017011175.1:c.49G>A, NP_001028736.1:p.Gly17Arg, XP_016866663.1:p.Gly17Arg, XP_016866664.1:p.Gly17Arg

Select item 13738128186.

rs1373812818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:112100705 (GRCh38)
6:112421908 (GRCh37)
Canonical SPDI:: NC_000006.12:112100704:C:A
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.112100705C>A, NW_003871062.1:g.98227C>A, NC_000006.11:g.112421908C>A, NM_001033564.3:c.161C>A, NM_001033564.2:c.161C>A, NM_001033564.1:c.161C>A, XM_017011174.3:c.161C>A, XM_017011174.2:c.161C>A, XM_017011174.1:c.161C>A, XM_017011175.3:c.161C>A, XM_017011175.2:c.161C>A, XM_017011175.1:c.161C>A, NP_001028736.1:p.Thr54Lys, XP_016866663.1:p.Thr54Lys, XP_016866664.1:p.Thr54Lys

Select item 13437720647.

rs1343772064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:112099354 (GRCh38)
6:112420557 (GRCh37)
Canonical SPDI:: NC_000006.12:112099353:A:C
Gene:: FAM229B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.112099354A>C, NW_003871062.1:g.96876A>C, NC_000006.11:g.112420557A>C, NM_001033564.3:c.71A>C, NM_001033564.2:c.71A>C, NM_001033564.1:c.71A>C, XM_017011174.3:c.71A>C, XM_017011174.2:c.71A>C, XM_017011174.1:c.71A>C, XM_017011175.3:c.71A>C, XM_017011175.2:c.71A>C, XM_017011175.1:c.71A>C, NP_001028736.1:p.Glu24Ala, XP_016866663.1:p.Glu24Ala, XP_016866664.1:p.Glu24Ala

Select item 13157387268.

rs1315738726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:112100758 (GRCh38)
6:112421961 (GRCh37)
Canonical SPDI:: NC_000006.12:112100757:C:G,NC_000006.12:112100757:C:T
Gene:: FAM229B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112100758C>G, NC_000006.12:g.112100758C>T, NW_003871062.1:g.98280C>G, NW_003871062.1:g.98280C>T, NC_000006.11:g.112421961C>G, NC_000006.11:g.112421961C>T, NM_001033564.3:c.214C>G, NM_001033564.3:c.214C>T, NM_001033564.2:c.214C>G, NM_001033564.2:c.214C>T, NM_001033564.1:c.214C>G, NM_001033564.1:c.214C>T, XM_017011174.3:c.214C>G, XM_017011174.3:c.214C>T, XM_017011174.2:c.214C>G, XM_017011174.2:c.214C>T, XM_017011174.1:c.214C>G, XM_017011174.1:c.214C>T, XM_017011175.3:c.214C>G, XM_017011175.3:c.214C>T, XM_017011175.2:c.214C>G, XM_017011175.2:c.214C>T, XM_017011175.1:c.214C>G, XM_017011175.1:c.214C>T, NP_001028736.1:p.Gln72Glu, NP_001028736.1:p.Gln72Ter, XP_016866663.1:p.Gln72Glu, XP_016866663.1:p.Gln72Ter, XP_016866664.1:p.Gln72Glu, XP_016866664.1:p.Gln72Ter

Select item 13010950749.

rs1301095074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:112100693 (GRCh38)
6:112421896 (GRCh37)
Canonical SPDI:: NC_000006.12:112100692:G:A
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.112100693G>A, NW_003871062.1:g.98215G>A, NC_000006.11:g.112421896G>A, NM_001033564.3:c.149G>A, NM_001033564.2:c.149G>A, NM_001033564.1:c.149G>A, XM_017011174.3:c.149G>A, XM_017011174.2:c.149G>A, XM_017011174.1:c.149G>A, XM_017011175.3:c.149G>A, XM_017011175.2:c.149G>A, XM_017011175.1:c.149G>A, NP_001028736.1:p.Ser50Asn, XP_016866663.1:p.Ser50Asn, XP_016866664.1:p.Ser50Asn

Select item 128910887510.

rs1289108875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:112099342 (GRCh38)
6:112420545 (GRCh37)
Canonical SPDI:: NC_000006.12:112099341:C:A
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.112099342C>A, NW_003871062.1:g.96864C>A, NC_000006.11:g.112420545C>A, NM_001033564.3:c.59C>A, NM_001033564.2:c.59C>A, NM_001033564.1:c.59C>A, XM_017011174.3:c.59C>A, XM_017011174.2:c.59C>A, XM_017011174.1:c.59C>A, XM_017011175.3:c.59C>A, XM_017011175.2:c.59C>A, XM_017011175.1:c.59C>A, NP_001028736.1:p.Ser20Ter, XP_016866663.1:p.Ser20Ter, XP_016866664.1:p.Ser20Ter

Select item 126263953911.

rs1262639539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:112099378 (GRCh38)
6:112420581 (GRCh37)
Canonical SPDI:: NC_000006.12:112099377:C:T
Gene:: FAM229B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112099378C>T, NW_003871062.1:g.96900C>T, NC_000006.11:g.112420581C>T, NM_001033564.3:c.95C>T, NM_001033564.2:c.95C>T, NM_001033564.1:c.95C>T, XM_017011174.3:c.95C>T, XM_017011174.2:c.95C>T, XM_017011174.1:c.95C>T, XM_017011175.3:c.95C>T, XM_017011175.2:c.95C>T, XM_017011175.1:c.95C>T, NP_001028736.1:p.Ala32Val, XP_016866663.1:p.Ala32Val, XP_016866664.1:p.Ala32Val

Select item 121762811612.

rs1217628116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:112100752 (GRCh38)
6:112421955 (GRCh37)
Canonical SPDI:: NC_000006.12:112100751:C:T
Gene:: FAM229B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000038/10 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.112100752C>T, NW_003871062.1:g.98274C>T, NC_000006.11:g.112421955C>T, NM_001033564.3:c.208C>T, NM_001033564.2:c.208C>T, NM_001033564.1:c.208C>T, XM_017011174.3:c.208C>T, XM_017011174.2:c.208C>T, XM_017011174.1:c.208C>T, XM_017011175.3:c.208C>T, XM_017011175.2:c.208C>T, XM_017011175.1:c.208C>T, NP_001028736.1:p.Pro70Ser, XP_016866663.1:p.Pro70Ser, XP_016866664.1:p.Pro70Ser

Select item 120475313713.

rs1204753137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:112099397 (GRCh38)
6:112420600 (GRCh37)
Canonical SPDI:: NC_000006.12:112099396:G:A
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000006.12:g.112099397G>A, NW_003871062.1:g.96919G>A, NC_000006.11:g.112420600G>A, NM_001033564.3:c.114G>A, NM_001033564.2:c.114G>A, NM_001033564.1:c.114G>A, XM_017011174.3:c.114G>A, XM_017011174.2:c.114G>A, XM_017011174.1:c.114G>A, XM_017011175.3:c.114G>A, XM_017011175.2:c.114G>A, XM_017011175.1:c.114G>A, NP_001028736.1:p.Met38Ile, XP_016866663.1:p.Met38Ile, XP_016866664.1:p.Met38Ile

Select item 119174961414.

rs1191749614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:112099373 (GRCh38)
6:112420576 (GRCh37)
Canonical SPDI:: NC_000006.12:112099372:T:G
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.112099373T>G, NW_003871062.1:g.96895T>G, NC_000006.11:g.112420576T>G, NM_001033564.3:c.90T>G, NM_001033564.2:c.90T>G, NM_001033564.1:c.90T>G, XM_017011174.3:c.90T>G, XM_017011174.2:c.90T>G, XM_017011174.1:c.90T>G, XM_017011175.3:c.90T>G, XM_017011175.2:c.90T>G, XM_017011175.1:c.90T>G, NP_001028736.1:p.Ser30Arg, XP_016866663.1:p.Ser30Arg, XP_016866664.1:p.Ser30Arg

Select item 117877429315.

rs1178774293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:112099355 (GRCh38)
6:112420558 (GRCh37)
Canonical SPDI:: NC_000006.12:112099354:A:C
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.112099355A>C, NW_003871062.1:g.96877A>C, NC_000006.11:g.112420558A>C, NM_001033564.3:c.72A>C, NM_001033564.2:c.72A>C, NM_001033564.1:c.72A>C, XM_017011174.3:c.72A>C, XM_017011174.2:c.72A>C, XM_017011174.1:c.72A>C, XM_017011175.3:c.72A>C, XM_017011175.2:c.72A>C, XM_017011175.1:c.72A>C, NP_001028736.1:p.Glu24Asp, XP_016866663.1:p.Glu24Asp, XP_016866664.1:p.Glu24Asp

Select item 116998294216.

rs1169982942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:112100715 (GRCh38)
6:112421918 (GRCh37)
Canonical SPDI:: NC_000006.12:112100714:T:A
Gene:: FAM229B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112100715T>A, NW_003871062.1:g.98237T>A, NC_000006.11:g.112421918T>A, NM_001033564.3:c.171T>A, NM_001033564.2:c.171T>A, NM_001033564.1:c.171T>A, XM_017011174.3:c.171T>A, XM_017011174.2:c.171T>A, XM_017011174.1:c.171T>A, XM_017011175.3:c.171T>A, XM_017011175.2:c.171T>A, XM_017011175.1:c.171T>A, NP_001028736.1:p.Asp57Glu, XP_016866663.1:p.Asp57Glu, XP_016866664.1:p.Asp57Glu

Select item 97367478317.

rs973674783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:112099360 (GRCh38)
6:112420563 (GRCh37)
Canonical SPDI:: NC_000006.12:112099359:G:A,NC_000006.12:112099359:G:C
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.112099360G>A, NC_000006.12:g.112099360G>C, NW_003871062.1:g.96882G>A, NW_003871062.1:g.96882G>C, NC_000006.11:g.112420563G>A, NC_000006.11:g.112420563G>C, NM_001033564.3:c.77G>A, NM_001033564.3:c.77G>C, NM_001033564.2:c.77G>A, NM_001033564.2:c.77G>C, NM_001033564.1:c.77G>A, NM_001033564.1:c.77G>C, XM_017011174.3:c.77G>A, XM_017011174.3:c.77G>C, XM_017011174.2:c.77G>A, XM_017011174.2:c.77G>C, XM_017011174.1:c.77G>A, XM_017011174.1:c.77G>C, XM_017011175.3:c.77G>A, XM_017011175.3:c.77G>C, XM_017011175.2:c.77G>A, XM_017011175.2:c.77G>C, XM_017011175.1:c.77G>A, XM_017011175.1:c.77G>C, NP_001028736.1:p.Gly26Glu, NP_001028736.1:p.Gly26Ala, XP_016866663.1:p.Gly26Glu, XP_016866663.1:p.Gly26Ala, XP_016866664.1:p.Gly26Glu, XP_016866664.1:p.Gly26Ala

Select item 96281080018.

rs962810800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:112099316 (GRCh38)
6:112420519 (GRCh37)
Canonical SPDI:: NC_000006.12:112099315:G:A
Gene:: FAM229B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.112099316G>A, NW_003871062.1:g.96838G>A, NC_000006.11:g.112420519G>A, NM_001033564.3:c.33G>A, NM_001033564.2:c.33G>A, NM_001033564.1:c.33G>A, XM_017011174.3:c.33G>A, XM_017011174.2:c.33G>A, XM_017011174.1:c.33G>A, XM_017011175.3:c.33G>A, XM_017011175.2:c.33G>A, XM_017011175.1:c.33G>A

Select item 95649482019.

rs956494820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:112100725 (GRCh38)
6:112421928 (GRCh37)
Canonical SPDI:: NC_000006.12:112100724:A:G,NC_000006.12:112100724:A:T
Gene:: FAM229B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000006.12:g.112100725A>G, NC_000006.12:g.112100725A>T, NW_003871062.1:g.98247A>G, NW_003871062.1:g.98247A>T, NC_000006.11:g.112421928A>G, NC_000006.11:g.112421928A>T, NM_001033564.3:c.181A>G, NM_001033564.3:c.181A>T, NM_001033564.2:c.181A>G, NM_001033564.2:c.181A>T, NM_001033564.1:c.181A>G, NM_001033564.1:c.181A>T, XM_017011174.3:c.181A>G, XM_017011174.3:c.181A>T, XM_017011174.2:c.181A>G, XM_017011174.2:c.181A>T, XM_017011174.1:c.181A>G, XM_017011174.1:c.181A>T, XM_017011175.3:c.181A>G, XM_017011175.3:c.181A>T, XM_017011175.2:c.181A>G, XM_017011175.2:c.181A>T, XM_017011175.1:c.181A>G, XM_017011175.1:c.181A>T, NP_001028736.1:p.Thr61Ala, NP_001028736.1:p.Thr61Ser, XP_016866663.1:p.Thr61Ala, XP_016866663.1:p.Thr61Ser, XP_016866664.1:p.Thr61Ala, XP_016866664.1:p.Thr61Ser

Select item 78282070020.

rs782820700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:112099303 (GRCh38)
6:112420506 (GRCh37)
Canonical SPDI:: NC_000006.12:112099302:C:G
Gene:: FAM229B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000016/2 (ExAC)
HGVS:: NC_000006.12:g.112099303C>G, NW_003871062.1:g.96825C>G, NC_000006.11:g.112420506C>G, NM_001033564.3:c.20C>G, NM_001033564.2:c.20C>G, NM_001033564.1:c.20C>G, XM_017011174.3:c.20C>G, XM_017011174.2:c.20C>G, XM_017011174.1:c.20C>G, XM_017011175.3:c.20C>G, XM_017011175.2:c.20C>G, XM_017011175.1:c.20C>G, NP_001028736.1:p.Thr7Ser, XP_016866663.1:p.Thr7Ser, XP_016866664.1:p.Thr7Ser

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