Linked Data
ClinVar Variation Id:
161780
ClinVar RCV Id:
RCV000149316
dbSNP Id:
rs193921043
gnomAD v2:
1-186158894-C-T
gnomAD v3:
1-186189762-C-T
gnomAD v4:
1-186189762-C-T
COSMIC:
COSM208957
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186189762C>T , CM000663.2:g.186189762C>T | GRCh38 |
| NC_000001.10:g.186158894C>T , CM000663.1:g.186158894C>T | GRCh37 |
| NC_000001.9:g.184425517C>T | NCBI36 |
| NG_011841.1:g.460212C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.16792C>T MANE Select | ENSP00000271588.4:p.Arg5598Ter | |
| ENST00000271588.8:c.16792C>T | ENSP00000271588.4:p.Arg5598Ter | |
| NM_031935.2:c.16792C>T | NP_114141.2:p.Arg5598Ter | |
| XM_011510037.1:c.16507C>T | XP_011508339.1:p.Arg5503Ter | |
| XM_011510038.1:c.16441C>T | XP_011508340.1:p.Arg5481Ter | |
| XR_922364.1:n.961-3917G>A | ||
| XR_922365.1:n.961-3917G>A | ||
| XR_922366.1:n.961-3917G>A | ||
| XR_922367.1:n.961-3917G>A | ||
| XM_011510038.3:c.16441C>T | XP_011508340.1:p.Arg5481Ter | |
| XM_017002437.1:c.14815C>T | XP_016857926.1:p.Arg4939Ter | |
| NM_031935.3:c.16792C>T MANE Select | NP_114141.2:p.Arg5598Ter |