Linked Data
ClinVar Variation Id:
14527
ClinVar RCV Id:
RCV000015626
RCV000041340
RCV000057374
RCV000144868
RCV000148602
RCV000245284
RCV000755679
RCV000771143
RCV001084244
RCV001174411
RCV002467497
RCV003224100
RCV004528114
dbSNP Id:
rs142000963
ExAC:
1:156108510 C / T
gnomAD v2:
1-156108510-C-T
gnomAD v3:
1-156138719-C-T
gnomAD v4:
1-156138719-C-T
COSMIC:
COSM897122
PubMed:
PMID:2526018
PMID:4306395
PMID:10739751
PMID:11102973
PMID:11180602
PMID:15060110
PMID:15770669
PMID:16585054
PMID:18478590
PMID:18795223
PMID:18926329
PMID:19875404
PMID:20497714
PMID:20848652
PMID:21831885
PMID:21980471
PMID:22177269
PMID:22199124
PMID:22276265
PMID:22355414
PMID:22526018
PMID:22570643
PMID:23861362
PMID:24503780
PMID:24623722
PMID:25025039
PMID:25448463
PMID:25637381
PMID:25873806
PMID:26498160
PMID:27000522
PMID:27153395
PMID:27447704
PMID:27896284
PMID:28701371
PMID:28807990
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138719C>T , CM000663.2:g.156138719C>T | GRCh38 |
| NC_000001.10:g.156108510C>T , CM000663.1:g.156108510C>T | GRCh37 |
| NC_000001.9:g.154375134C>T | NCBI36 |
| NG_008692.2:g.61147C>T , LRG_254:g.61147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1372C>T | ENSP00000426535.3:p.Arg458Cys | |
| ENST00000682650.1:c.1840C>T | ENSP00000506904.1:p.Arg614Cys | |
| ENST00000683032.1:c.1930C>T | ENSP00000506771.1:p.Arg644Cys | |
| ENST00000683773.1:n.163+112C>T | ||
| ENST00000684195.1:c.*1022C>T | ENSP00000508220.1:n.*1022C>T | |
| ENST00000361308.9:c.1930C>T | ENSP00000355292.6:p.Arg644Cys | |
| ENST00000368300.9:c.1930C>T MANE Select | ENSP00000357283.4:p.Arg644Cys | |
| ENST00000674518.1:c.*1280C>T | ENSP00000502261.1:n.*1280C>T | |
| ENST00000674600.1:c.*1729C>T | ENSP00000501666.1:n.*1729C>T | |
| ENST00000675455.1:c.*1730C>T | ENSP00000501795.1:n.*1730C>T | |
| ENST00000675667.1:c.1930C>T | ENSP00000501803.1:p.Arg644Cys | |
| ENST00000675874.1:c.*1401C>T | ENSP00000501851.1:n.*1401C>T | |
| ENST00000675881.1:c.*941C>T | ENSP00000501670.1:n.*941C>T | |
| ENST00000675939.1:c.1930C>T | ENSP00000502256.1:p.Arg644Cys | |
| ENST00000675989.1:n.3533C>T | ||
| ENST00000676208.1:c.*1033C>T | ENSP00000502468.1:n.*1033C>T | |
| ENST00000676385.2:c.1840C>T | ENSP00000502091.1:p.Arg614Cys | |
| ENST00000676434.1:c.*1685C>T | ENSP00000501648.1:n.*1685C>T | |
| ENST00000347559.6:c.1840C>T | ENSP00000292304.3:p.Arg614Cys | |
| ENST00000368299.7:c.1818+112C>T | ENSP00000357282.3:n.1818+112C>T | |
| ENST00000368300.8:c.1930C>T | ENSP00000357283.4:p.Arg644Cys | |
| ENST00000448611.6:c.1594C>T | ENSP00000395597.2:p.Arg532Cys | |
| ENST00000473598.6:c.1633C>T | ENSP00000421821.1:p.Arg545Cys | |
| ENST00000496738.5:n.2143C>T | ||
| ENST00000506981.1:n.514C>T | ||
| ENST00000508500.1:c.718C>T | ENSP00000424977.1:p.Arg240Cys | |
| NM_001257374.2:c.1594C>T | NP_001244303.1:p.Arg532Cys | |
| NM_001282626.1:c.1818+112C>T | NP_001269555.1:n.1818+112C>T | |
| NM_170707.3:c.1930C>T | NP_733821.1:p.Arg644Cys | |
| NM_170708.3:c.1840C>T | NP_733822.1:p.Arg614Cys | |
| XM_011509533.1:c.1594C>T | XP_011507835.1:p.Arg532Cys | |
| XM_011509534.1:c.1306C>T | XP_011507836.1:p.Arg436Cys | |
| XR_921781.1:n.2219C>T | ||
| XM_011509534.2:c.1306C>T | XP_011507836.1:p.Arg436Cys | |
| XR_921781.2:n.2217C>T | ||
| NM_170707.4:c.1930C>T MANE Select | NP_733821.1:p.Arg644Cys | |
| NM_001257374.3:c.1594C>T | NP_001244303.1:p.Arg532Cys | |
| NM_001282626.2:c.1818+112C>T | NP_001269555.1:n.1818+112C>T | |
| NM_170708.4:c.1840C>T | NP_733822.1:p.Arg614Cys |