Linked Data
ClinVar Variation Id:
66862
ClinVar RCV Id:
RCV000057347
RCV000208352
RCV000454519
RCV000785171
RCV000812762
RCV001004948
RCV001174410
RCV001174246
RCV001185752
RCV003996506
dbSNP Id:
rs267607613
gnomAD v2:
1-156107469-C-T
gnomAD v3:
1-156137678-C-T
gnomAD v4:
1-156137678-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137678C>T , CM000663.2:g.156137678C>T | GRCh38 |
| NC_000001.10:g.156107469C>T , CM000663.1:g.156107469C>T | GRCh37 |
| NC_000001.9:g.154374093C>T | NCBI36 |
| NG_008692.2:g.60106C>T , LRG_254:g.60106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1075C>T | ENSP00000426535.3:p.Arg359Cys | |
| ENST00000498722.3:n.865C>T | ||
| ENST00000682650.1:c.1608+446C>T | ENSP00000506904.1:n.1608+446C>T | |
| ENST00000683032.1:c.1633C>T | ENSP00000506771.1:p.Arg545Cys | |
| ENST00000684195.1:c.1604C>T | ENSP00000508220.1:p.Ala535Val | |
| ENST00000361308.9:c.1633C>T | ENSP00000355292.6:p.Arg545Cys | |
| ENST00000368300.9:c.1633C>T MANE Select | ENSP00000357283.4:p.Arg545Cys | |
| ENST00000496738.6:n.2092C>T | ||
| ENST00000674518.1:c.*983C>T | ENSP00000502261.1:n.*983C>T | |
| ENST00000674600.1:c.*1432C>T | ENSP00000501666.1:n.*1432C>T | |
| ENST00000674720.1:c.*195C>T | ENSP00000502798.1:n.*195C>T | |
| ENST00000675431.1:n.1326C>T | ||
| ENST00000675455.1:c.*1433C>T | ENSP00000501795.1:n.*1433C>T | |
| ENST00000675667.1:c.1633C>T | ENSP00000501803.1:p.Arg545Cys | |
| ENST00000675874.1:c.*1104C>T | ENSP00000501851.1:n.*1104C>T | |
| ENST00000675881.1:c.*644C>T | ENSP00000501670.1:n.*644C>T | |
| ENST00000675939.1:c.1633C>T | ENSP00000502256.1:p.Arg545Cys | |
| ENST00000675989.1:n.2492C>T | ||
| ENST00000676208.1:c.*736C>T | ENSP00000502468.1:n.*736C>T | |
| ENST00000676283.1:n.2429C>T | ||
| ENST00000676385.2:c.1608+446C>T | ENSP00000502091.1:n.1608+446C>T | |
| ENST00000676434.1:c.*644C>T | ENSP00000501648.1:n.*644C>T | |
| ENST00000677389.1:c.1633C>T MANE Plus Clinical | ENSP00000503633.1:p.Arg545Cys | |
| ENST00000347559.6:c.1608+446C>T | ENSP00000292304.3:n.1608+446C>T | |
| ENST00000361308.8:c.1378C>T | ENSP00000355292.5:p.Arg460Cys | |
| ENST00000368297.5:c.1390C>T | ENSP00000357280.1:p.Arg464Cys | |
| ENST00000368299.7:c.1633C>T | ENSP00000357282.3:p.Arg545Cys | |
| ENST00000368300.8:c.1633C>T | ENSP00000357283.4:p.Arg545Cys | |
| ENST00000368301.6:c.1633C>T | ENSP00000357284.2:p.Arg545Cys | |
| ENST00000448611.6:c.1297C>T | ENSP00000395597.2:p.Arg433Cys | |
| ENST00000473598.6:c.1336C>T | ENSP00000421821.1:p.Arg446Cys | |
| ENST00000496738.5:n.1102C>T | ||
| ENST00000498722.2:n.865C>T | ||
| ENST00000506981.1:n.217C>T | ||
| ENST00000508500.1:c.486+446C>T | ENSP00000424977.1:n.486+446C>T | |
| NM_001257374.2:c.1297C>T | NP_001244303.1:p.Arg433Cys | |
| NM_001282624.1:c.1390C>T | NP_001269553.1:p.Arg464Cys | |
| NM_001282625.1:c.1633C>T | NP_001269554.1:p.Arg545Cys | |
| NM_001282626.1:c.1633C>T | NP_001269555.1:p.Arg545Cys | |
| NM_005572.3:c.1633C>T , LRG_254t1:c.1633C>T | NP_005563.1:p.Arg545Cys | |
| NM_170707.3:c.1633C>T | NP_733821.1:p.Arg545Cys | |
| NM_170708.3:c.1608+446C>T | NP_733822.1:n.1608+446C>T | |
| XM_011509533.1:c.1297C>T | XP_011507835.1:p.Arg433Cys | |
| XM_011509534.1:c.1009C>T | XP_011507836.1:p.Arg337Cys | |
| XR_921781.1:n.1922C>T | ||
| XM_011509534.2:c.1009C>T | XP_011507836.1:p.Arg337Cys | |
| XR_921781.2:n.1920C>T | ||
| NM_170707.4:c.1633C>T MANE Select | NP_733821.1:p.Arg545Cys | |
| NM_001257374.3:c.1297C>T | NP_001244303.1:p.Arg433Cys | |
| NM_001282626.2:c.1633C>T | NP_001269555.1:p.Arg545Cys | |
| NM_001282624.2:c.1390C>T | NP_001269553.1:p.Arg464Cys | |
| NM_001282625.2:c.1633C>T | NP_001269554.1:p.Arg545Cys | |
| NM_005572.4:c.1633C>T MANE Plus Clinical | NP_005563.1:p.Arg545Cys | |
| NM_170708.4:c.1608+446C>T | NP_733822.1:n.1608+446C>T |