Linked Data
ClinVar Variation Id:
2127762
ClinVar RCV Id:
RCV003055654
dbSNP Id:
rs766268405
ExAC:
1:172634947 A / G
gnomAD v3:
1-172665807-A-G
gnomAD v4:
1-172665807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665807A>G , CM000663.2:g.172665807A>G | GRCh38 |
| NC_000001.10:g.172634947A>G , CM000663.1:g.172634947A>G | GRCh37 |
| NC_000001.9:g.170901570A>G | NCBI36 |
| NG_007269.1:g.11763A>G , LRG_58:g.11763A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.637A>G MANE Select | ENSP00000356694.2:p.Met213Val | |
| ENST00000340030.4:c.*207A>G | ENSP00000344739.3:n.*207A>G | |
| ENST00000367721.2:c.637A>G | ENSP00000356694.2:p.Met213Val | |
| NM_000639.2:c.637A>G | NP_000630.1:p.Met213Val | |
| NM_001302746.1:c.*207A>G | NP_001289675.1:n.*207A>G | |
| NM_000639.3:c.637A>G MANE Select | NP_000630.1:p.Met213Val | |
| NM_001302746.2:c.*207A>G | NP_001289675.1:n.*207A>G |