Linked Data
ClinVar Variation Id:
287394
dbSNP Id:
rs138132026
ExAC:
4:88957446 G / A
gnomAD v2:
4-88957446-G-A
gnomAD v3:
4-88036294-G-A
gnomAD v4:
4-88036294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88036294G>A , CM000666.2:g.88036294G>A | GRCh38 |
| NC_000004.11:g.88957446G>A , CM000666.1:g.88957446G>A | GRCh37 |
| NC_000004.10:g.89176470G>A | NCBI36 |
| NG_008604.1:g.33627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.784G>A MANE Select | ENSP00000237596.2:p.Val262Met | |
| ENST00000237596.6:c.784G>A | ENSP00000237596.2:p.Val262Met | |
| ENST00000506367.1:n.231G>A | ||
| ENST00000506727.1:n.370G>A | ||
| NM_000297.3:c.784G>A | NP_000288.1:p.Val262Met | |
| XM_011532028.1:c.784G>A | XP_011530330.1:p.Val262Met | |
| XM_011532029.1:c.64G>A | XP_011530331.1:p.Val22Met | |
| XR_244632.2:n.879G>A | ||
| NR_156488.1:n.871G>A | ||
| XM_011532028.2:c.784G>A | XP_011530330.1:p.Val262Met | |
| XM_011532030.2:c.-184G>A | XP_011530332.1:n.-184G>A | |
| NM_000297.4:c.784G>A MANE Select | NP_000288.1:p.Val262Met | |
| NR_156488.2:n.883G>A |