Linked Data
ClinVar Variation Id:
31945
ClinVar RCV Id:
RCV000024623
RCV000154512
RCV000201232
RCV000444813
RCV000433143
RCV000439612
RCV000709694
RCV000423306
RCV000427443
RCV000434659
RCV000444019
RCV001705599
RCV002054475
RCV001327960
RCV001526612
RCV004527297
RCV003588566
dbSNP Id:
rs121913272
CIViC:
CA180900
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179210192T>C , CM000665.2:g.179210192T>C | GRCh38 |
| NC_000003.11:g.178927980T>C , CM000665.1:g.178927980T>C | GRCh37 |
| NC_000003.10:g.180410674T>C | NCBI36 |
| NG_012113.2:g.66670T>C , LRG_310:g.66670T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1258T>C MANE Select | ENSP00000263967.3:p.Cys420Arg | |
| ENST00000643187.1:c.1258T>C | ENSP00000493507.1:p.Cys420Arg | |
| ENST00000674534.1:n.1012T>C | ||
| ENST00000675467.1:n.4065T>C | ||
| ENST00000675786.1:c.1258T>C | ENSP00000502323.1:p.Cys420Arg | |
| ENST00000263967.3:c.1258T>C | ENSP00000263967.3:p.Cys420Arg | |
| NM_006218.2:c.1258T>C , LRG_310t1:c.1258T>C | NP_006209.2:p.Cys420Arg | |
| XM_006713658.2:c.1258T>C | XP_006713721.1:p.Cys420Arg | |
| XM_011512894.1:c.1258T>C | XP_011511196.1:p.Cys420Arg | |
| NM_006218.3:c.1258T>C | NP_006209.2:p.Cys420Arg | |
| XM_006713658.4:c.1258T>C | XP_006713721.1:p.Cys420Arg | |
| XM_011512894.2:c.1258T>C | XP_011511196.1:p.Cys420Arg | |
| NM_006218.4:c.1258T>C MANE Select | NP_006209.2:p.Cys420Arg |