Linked Data
dbSNP Id:
rs1943262219
gnomAD v3:
11-89178709-G-A
gnomAD v4:
11-89178709-G-A
COSMIC:
COSM691149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178709G>A , CM000673.2:g.89178709G>A | GRCh38 |
| NC_000011.9:g.88911877G>A , CM000673.1:g.88911877G>A | GRCh37 |
| NC_000011.8:g.88551525G>A | NCBI36 |
| NG_008748.1:g.5838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.756G>A MANE Select | ENSP00000263321.4:p.Met252Ile | |
| ENST00000263321.5:c.756G>A | ENSP00000263321.4:p.Met252Ile | |
| ENST00000526139.1:n.817G>A | ||
| NM_000372.4:c.756G>A | NP_000363.1:p.Met252Ile | |
| XM_011542970.1:c.756G>A | XP_011541272.1:p.Met252Ile | |
| XM_011542970.2:c.756G>A | XP_011541272.1:p.Met252Ile | |
| XR_001748321.1:n.2718-65176C>T | ||
| XR_001748322.1:n.2733-65176C>T | ||
| NM_000372.5:c.756G>A MANE Select | NP_000363.1:p.Met252Ile |