Linked Data
ClinVar Variation Id:
125436
ClinVar RCV Id:
RCV000111461
dbSNP Id:
rs281865440
ExAC:
12:103260378 G / A
gnomAD v2:
12-103260378-G-A
gnomAD v4:
12-102866600-G-A
COSMIC:
COSM1706144
ERepo:
CA267693/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866600G>A , CM000674.2:g.102866600G>A | GRCh38 |
| NC_000012.11:g.103260378G>A , CM000674.1:g.103260378G>A | GRCh37 |
| NC_000012.10:g.101784508G>A | NCBI36 |
| NG_008690.1:g.56003C>T | |
| NG_008690.2:g.96811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.505C>T MANE Select | ENSP00000448059.1:p.Arg169Cys | |
| ENST00000307000.7:c.490C>T | ENSP00000303500.2:p.Arg164Cys | |
| ENST00000549111.5:n.601C>T | ||
| ENST00000551988.5:n.530+10862C>T | ||
| ENST00000553106.5:c.505C>T | ENSP00000448059.1:p.Arg169Cys | |
| NM_000277.1:c.505C>T | NP_000268.1:p.Arg169Cys | |
| XM_011538422.1:c.505C>T | XP_011536724.1:p.Arg169Cys | |
| NM_000277.2:c.505C>T | NP_000268.1:p.Arg169Cys | |
| NM_001354304.1:c.505C>T | NP_001341233.1:p.Arg169Cys | |
| XM_017019370.2:c.505C>T | XP_016874859.1:p.Arg169Cys | |
| NM_000277.3:c.505C>T MANE Select | NP_000268.1:p.Arg169Cys | |
| NM_001354304.2:c.505C>T | NP_001341233.1:p.Arg169Cys |