Linked Data
dbSNP Id:
rs1332268501
gnomAD v3:
6-167341179-G-A
gnomAD v4:
6-167341179-G-A
COSMIC:
COSM166856
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341179G>A , CM000668.2:g.167341179G>A | GRCh38 |
| NC_000006.11:g.167754667G>A , CM000668.1:g.167754667G>A | GRCh37 |
| NC_000006.10:g.167674657G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1279G>A MANE Select | ENSP00000239587.5:p.Ala427Thr | |
| ENST00000649884.1:c.1060G>A | ENSP00000497040.1:p.Ala354Thr | |
| ENST00000239587.9:c.1279G>A | ENSP00000239587.5:p.Ala427Thr | |
| ENST00000515138.1:c.1279G>A | ENSP00000424130.1:p.Ala427Thr | |
| NM_031949.4:c.1279G>A | NP_114155.4:p.Ala427Thr | |
| XM_006715572.2:c.1060G>A | XP_006715635.1:p.Ala354Thr | |
| XM_006715572.4:c.1060G>A | XP_006715635.1:p.Ala354Thr | |
| NM_031949.5:c.1279G>A MANE Select | NP_114155.4:p.Ala427Thr |