gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54482295 (AFR)
Genomes Max Group AF
0.53991249 (AFR)
Exomes Max Group AF
0.54679324 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44926116T>C , CM000679.2:g.44926116T>C | GRCh38 |
| NC_000017.10:g.43003484T>C , CM000679.1:g.43003484T>C | GRCh37 |
| NC_000017.9:g.40359010T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593135.6:c.2523A>G MANE Select | ENSP00000465992.1:p.Ala841= | |
| ENST00000587309.5:c.*284A>G | ENSP00000465377.1:n.*284A>G | |
| ENST00000593135.5:c.2523A>G | ENSP00000465992.1:p.Ala841= | |
| NM_001264573.1:c.*284A>G | NP_001251503.1:n.*284A>G | |
| NM_001265577.1:c.2523A>G | NP_001252506.1:p.Ala841= | |
| XM_011524385.1:c.2586A>G | XP_011522687.1:p.Ala862= | |
| XM_011524386.1:c.2559A>G | XP_011522688.1:p.Ala853= | |
| XM_011524387.1:c.2559A>G | XP_011522689.1:p.Ala853= | |
| XM_011524388.1:c.2550A>G | XP_011522690.1:p.Ala850= | |
| XM_011524389.1:c.*284A>G | XP_011522691.1:n.*284A>G | |
| XM_011524390.1:c.2481A>G | XP_011522692.1:p.Ala827= | |
| XM_011524385.2:c.2586A>G | XP_011522687.1:p.Ala862= | |
| XM_011524386.2:c.2559A>G | XP_011522688.1:p.Ala853= | |
| XM_011524387.2:c.2559A>G | XP_011522689.1:p.Ala853= | |
| XM_011524388.3:c.2550A>G | XP_011522690.1:p.Ala850= | |
| XM_011524389.2:c.*284A>G | XP_011522691.1:n.*284A>G | |
| XM_011524390.2:c.2481A>G | XP_011522692.1:p.Ala827= | |
| NM_001264573.2:c.*284A>G | NP_001251503.1:n.*284A>G | |
| NM_001265577.2:c.2523A>G MANE Select | NP_001252506.1:p.Ala841= |