COSMIC:
COSM148188 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47004678 (AMR)
Genomes Max Group AF
0.40454976 (AMR)
Exomes Max Group AF
0.49024243 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8149767T>G , CM000679.2:g.8149767T>G | GRCh38 |
| NC_000017.10:g.8053085T>G , CM000679.1:g.8053085T>G | GRCh37 |
| NC_000017.9:g.7993810T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317276.9:c.639A>C MANE Select | ENSP00000314420.4:p.Thr213= | |
| ENST00000317276.8:c.639A>C | ENSP00000314420.4:p.Thr213= | |
| ENST00000354903.9:c.591A>C | ENSP00000346979.5:p.Thr197= | |
| ENST00000579065.1:n.825A>C | ||
| ENST00000581082.5:c.639A>C | ENSP00000462064.1:p.Thr213= | |
| ENST00000581395.5:c.639A>C | ENSP00000464696.1:p.Thr213= | |
| ENST00000582719.5:c.639A>C | ENSP00000463054.1:p.Thr213= | |
| NM_002616.2:c.639A>C | NP_002607.2:p.Thr213= | |
| XM_005256689.1:c.639A>C | XP_005256746.1:p.Thr213= | |
| XM_005256690.1:c.639A>C | XP_005256747.1:p.Thr213= | |
| XM_005256689.2:c.639A>C | XP_005256746.1:p.Thr213= | |
| XM_024450803.1:c.639A>C | XP_024306571.1:p.Thr213= | |
| NM_002616.3:c.639A>C MANE Select | NP_002607.2:p.Thr213= |