Linked Data
ClinVar Variation Id:
713888
ClinVar RCV Id:
RCV000886105
dbSNP Id:
rs77063376
ExAC:
2:178936561 G / A
gnomAD v2:
2-178936561-G-A
gnomAD v3:
2-178071834-G-A
gnomAD v4:
2-178071834-G-A
COSMIC:
COSM208380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178071834G>A , CM000664.2:g.178071834G>A | GRCh38 |
| NC_000002.11:g.178936561G>A , CM000664.1:g.178936561G>A | GRCh37 |
| NC_000002.10:g.178644807G>A | NCBI36 |
| NG_012168.1:g.41506C>T | |
| NG_012168.2:g.41506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.604C>T MANE Select | ENSP00000286063.5:p.Arg202Cys | |
| ENST00000286063.10:c.604C>T | ENSP00000286063.5:p.Arg202Cys | |
| ENST00000358450.8:c.162+32468C>T | ENSP00000351232.4:n.162+32468C>T | |
| NM_001077197.1:c.162+32468C>T | NP_001070665.1:n.162+32468C>T | |
| NM_016953.3:c.604C>T | NP_058649.3:p.Arg202Cys | |
| NM_016953.4:c.604C>T MANE Select | NP_058649.3:p.Arg202Cys | |
| NM_001077197.2:c.162+32468C>T | NP_001070665.1:n.162+32468C>T |