Linked Data
ClinVar Variation Id:
2789216
ClinVar RCV Id:
RCV003633901
dbSNP Id:
rs753616723
ExAC:
1:172634949 G / A
gnomAD v2:
1-172634949-G-A
gnomAD v4:
1-172665809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665809G>A , CM000663.2:g.172665809G>A | GRCh38 |
| NC_000001.10:g.172634949G>A , CM000663.1:g.172634949G>A | GRCh37 |
| NC_000001.9:g.170901572G>A | NCBI36 |
| NG_007269.1:g.11765G>A , LRG_58:g.11765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.639G>A MANE Select | ENSP00000356694.2:p.Met213Ile | |
| ENST00000340030.4:c.*209G>A | ENSP00000344739.3:n.*209G>A | |
| ENST00000367721.2:c.639G>A | ENSP00000356694.2:p.Met213Ile | |
| NM_000639.2:c.639G>A | NP_000630.1:p.Met213Ile | |
| NM_001302746.1:c.*209G>A | NP_001289675.1:n.*209G>A | |
| NM_000639.3:c.639G>A MANE Select | NP_000630.1:p.Met213Ile | |
| NM_001302746.2:c.*209G>A | NP_001289675.1:n.*209G>A |