Linked Data
ClinVar Variation Id:
8812
ClinVar RCV Id:
RCV000009357
RCV000009358
RCV000197776
RCV001003683
RCV001823871
RCV002228023
RCV002476949
dbSNP Id:
rs137852753
gnomAD v4:
2-202518831-C-T
COSMIC:
COSM1404577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202518831C>T , CM000664.2:g.202518831C>T | GRCh38 |
| NC_000002.11:g.203383554C>T , CM000664.1:g.203383554C>T | GRCh37 |
| NC_000002.10:g.203091799C>T | NCBI36 |
| NG_009363.1:g.147505C>T , LRG_712:g.147505C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.631C>T MANE Select | ENSP00000363708.4:p.Arg211Ter | |
| ENST00000638587.1:c.562C>T | ENSP00000491062.1:p.Arg188Ter | |
| ENST00000374574.2:c.631C>T | ENSP00000363702.2:p.Arg211Ter | |
| ENST00000374580.8:c.631C>T | ENSP00000363708.4:p.Arg211Ter | |
| NM_001204.6:c.631C>T , LRG_712t1:c.631C>T | NP_001195.2:p.Arg211Ter | |
| XM_011511687.1:c.631C>T | XP_011509989.1:p.Arg211Ter | |
| XM_011511688.1:c.631C>T | XP_011509990.1:p.Arg211Ter | |
| NM_001204.7:c.631C>T MANE Select | NP_001195.2:p.Arg211Ter |