Linked Data
ClinVar Variation Id:
48648
dbSNP Id:
rs387907352
ExAC:
7:2984163 C / T
gnomAD v4:
7-2944529-C-T
COSMIC:
COSM41655
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2944529C>T , CM000669.2:g.2944529C>T | GRCh38 |
| NC_000007.13:g.2984163C>T , CM000669.1:g.2984163C>T | GRCh37 |
| NC_000007.12:g.2950689C>T | NCBI36 |
| NG_027759.1:g.104347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698637.1:n.693G>A | ||
| ENST00000698654.1:n.626G>A | ||
| ENST00000698662.1:n.567G>A | ||
| ENST00000396946.9:c.367G>A MANE Select | ENSP00000380150.4:p.Gly123Ser | |
| ENST00000396946.8:c.367G>A | ENSP00000380150.4:p.Gly123Ser | |
| NM_032415.5:c.367G>A | NP_115791.3:p.Gly123Ser | |
| XM_011515585.1:c.367G>A | XP_011513887.1:p.Gly123Ser | |
| XM_011515586.1:c.367G>A | XP_011513888.1:p.Gly123Ser | |
| XM_011515587.1:c.367G>A | XP_011513889.1:p.Gly123Ser | |
| NM_001324281.1:c.367G>A | NP_001311210.1:p.Gly123Ser | |
| XM_011515586.2:c.367G>A | XP_011513888.1:p.Gly123Ser | |
| XM_011515587.2:c.367G>A | XP_011513889.1:p.Gly123Ser | |
| XR_001744885.1:n.766G>A | ||
| NM_001324281.2:c.367G>A | NP_001311210.1:p.Gly123Ser | |
| NM_032415.6:c.367G>A | NP_115791.3:p.Gly123Ser | |
| NM_001324281.3:c.367G>A | NP_001311210.1:p.Gly123Ser | |
| NM_032415.7:c.367G>A MANE Select | NP_115791.3:p.Gly123Ser |