Linked Data
dbSNP Id:
rs779689583
ExAC:
14:37132455 G / A
gnomAD v2:
14-37132455-G-A
gnomAD v3:
14-36663250-G-A
gnomAD v4:
14-36663250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663250G>A , CM000676.2:g.36663250G>A | GRCh38 |
| NC_000014.8:g.37132455G>A , CM000676.1:g.37132455G>A | GRCh37 |
| NC_000014.7:g.36202206G>A | NCBI36 |
| NG_013357.1:g.10683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.358G>A MANE Select | ENSP00000355245.6:p.Val120Met | |
| ENST00000361487.6:c.358G>A | ENSP00000355245.6:p.Val120Met | |
| ENST00000402703.6:c.358G>A | ENSP00000384817.2:p.Val120Met | |
| ENST00000554201.1:c.-204G>A | ENSP00000450434.1:n.-204G>A | |
| NM_006194.3:c.358G>A | NP_006185.1:p.Val120Met | |
| NM_001372076.1:c.358G>A MANE Select | NP_001359005.1:p.Val120Met | |
| NM_006194.4:c.358G>A | NP_006185.1:p.Val120Met |