gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008442 (SAS)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00008886 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10825194G>A , CM000681.2:g.10825194G>A | GRCh38 |
| NC_000019.9:g.10935870G>A , CM000681.1:g.10935870G>A | GRCh37 |
| NC_000019.8:g.10796870G>A | NCBI36 |
| NG_008792.1:g.112116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681972.1:n.1462G>A | ||
| ENST00000355667.11:c.2031G>A | ENSP00000347890.6:p.Lys677= | |
| ENST00000389253.9:c.2031G>A MANE Select | ENSP00000373905.4:p.Lys677= | |
| ENST00000355667.10:c.2031G>A | ENSP00000347890.6:p.Lys677= | |
| ENST00000359692.10:c.2019G>A | ENSP00000352721.6:p.Lys673= | |
| ENST00000389253.8:c.2031G>A | ENSP00000373905.3:p.Lys677= | |
| ENST00000408974.8:c.2019G>A | ENSP00000386192.3:p.Lys673= | |
| ENST00000585892.5:c.2031G>A | ENSP00000468734.1:p.Lys677= | |
| ENST00000590806.5:n.4219G>A | ||
| ENST00000593203.1:n.814G>A | ||
| NM_001005360.2:c.2031G>A | NP_001005360.1:p.Lys677= | |
| NM_001005361.2:c.2031G>A | NP_001005361.1:p.Lys677= | |
| NM_001005362.2:c.2019G>A | NP_001005362.1:p.Lys673= | |
| NM_001190716.1:c.2031G>A | NP_001177645.1:p.Lys677= | |
| NM_004945.3:c.2019G>A | NP_004936.2:p.Lys673= | |
| NM_001005361.3:c.2031G>A MANE Select | NP_001005361.1:p.Lys677= | |
| NM_001190716.2:c.2031G>A | NP_001177645.1:p.Lys677= | |
| NM_001005360.3:c.2031G>A | NP_001005360.1:p.Lys677= | |
| NM_001005362.3:c.2019G>A | NP_001005362.1:p.Lys673= | |
| NM_004945.4:c.2019G>A | NP_004936.2:p.Lys673= |