COSMIC:
COSN6662049 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40595192 (AMR)
Genomes Max Group AF
0.40618991 (AMR)
Exomes Max Group AF
0.20294882 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8227549A>C , CM000679.2:g.8227549A>C | GRCh38 |
| NC_000017.10:g.8130867A>C , CM000679.1:g.8130867A>C | GRCh37 |
| NC_000017.9:g.8071592A>C | NCBI36 |
| NG_032148.1:g.25547T>G | |
| NG_032148.2:g.25547T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699849.1:c.*631T>G | ENSP00000514647.1:n.*631T>G | |
| ENST00000699850.1:n.4217T>G | ||
| ENST00000699851.1:n.5171T>G | ||
| ENST00000699852.1:c.*2798T>G | ENSP00000514648.1:n.*2798T>G | |
| ENST00000699853.1:c.*870T>G | ENSP00000514649.1:n.*870T>G | |
| ENST00000449476.7:c.*1019T>G | ENSP00000396018.2:n.*1019T>G | |
| ENST00000643543.1:c.*2992T>G | ENSP00000494323.1:n.*2992T>G | |
| ENST00000651323.1:c.*631T>G MANE Select | ENSP00000498499.1:n.*631T>G | |
| ENST00000315684.12:c.*631T>G | ENSP00000313759.8:n.*631T>G | |
| ENST00000449476.6:c.*1019T>G | ENSP00000396018.2:n.*1019T>G | |
| NM_025099.5:c.*631T>G | NP_079375.3:n.*631T>G | |
| NR_046431.1:n.4174T>G | ||
| XM_006721577.2:c.*631T>G | XP_006721640.1:n.*631T>G | |
| XM_006721578.2:c.*631T>G | XP_006721641.1:n.*631T>G | |
| XM_011524010.1:c.*631T>G | XP_011522312.1:n.*631T>G | |
| XM_011524011.1:c.*631T>G | XP_011522313.1:n.*631T>G | |
| XR_429823.2:n.4162T>G | ||
| XR_429824.2:n.4263T>G | ||
| NM_025099.6:c.*631T>G MANE Select | NP_079375.3:n.*631T>G | |
| XM_006721577.3:c.*631T>G | XP_006721640.1:n.*631T>G | |
| XM_006721578.3:c.*631T>G | XP_006721641.1:n.*631T>G | |
| XM_011524010.2:c.*631T>G | XP_011522312.1:n.*631T>G | |
| XM_011524011.2:c.*631T>G | XP_011522313.1:n.*631T>G | |
| XR_001752639.1:n.4136T>G | ||
| XR_001752640.1:n.4284T>G | ||
| XR_001752641.1:n.4219T>G | ||
| XR_001752642.1:n.4069T>G | ||
| XR_002958073.1:n.4575T>G | ||
| XR_429823.3:n.4162T>G | ||
| XR_429824.3:n.4263T>G | ||
| NR_046431.2:n.4135T>G |