Linked Data
ClinVar Variation Id:
1985077
ClinVar RCV Id:
RCV002800440
dbSNP Id:
rs147369993
ExAC:
1:172634941 G / A
gnomAD v2:
1-172634941-G-A
gnomAD v3:
1-172665801-G-A
gnomAD v4:
1-172665801-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665801G>A , CM000663.2:g.172665801G>A | GRCh38 |
| NC_000001.10:g.172634941G>A , CM000663.1:g.172634941G>A | GRCh37 |
| NC_000001.9:g.170901564G>A | NCBI36 |
| NG_007269.1:g.11757G>A , LRG_58:g.11757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.631G>A MANE Select | ENSP00000356694.2:p.Val211Ile | |
| ENST00000340030.4:c.*201G>A | ENSP00000344739.3:n.*201G>A | |
| ENST00000367721.2:c.631G>A | ENSP00000356694.2:p.Val211Ile | |
| NM_000639.2:c.631G>A | NP_000630.1:p.Val211Ile | |
| NM_001302746.1:c.*201G>A | NP_001289675.1:n.*201G>A | |
| NM_000639.3:c.631G>A MANE Select | NP_000630.1:p.Val211Ile | |
| NM_001302746.2:c.*201G>A | NP_001289675.1:n.*201G>A |