gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23261848 (NFE)
Genomes Max Group AF
0.23261848 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12202735A>G , CM000663.2:g.12202735A>G | GRCh38 |
| NC_000001.10:g.12262792A>G , CM000663.1:g.12262792A>G | GRCh37 |
| NC_000001.9:g.12185379A>G | NCBI36 |
| NG_029791.1:g.40733A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376259.7:c.1105+564A>G MANE Select | ENSP00000365435.3:n.1105+564A>G | |
| ENST00000376259.6:c.1105+564A>G | ENSP00000365435.3:n.1105+564A>G | |
| ENST00000492361.1:n.1094+564A>G | ||
| NM_001066.2:c.1105+564A>G | NP_001057.1:n.1105+564A>G | |
| XM_011542060.1:c.1171+163A>G | XP_011540362.1:n.1171+163A>G | |
| XM_011542061.1:c.1171+163A>G | XP_011540363.1:n.1171+163A>G | |
| XM_011542062.1:c.1150+163A>G | XP_011540364.1:n.1150+163A>G | |
| XM_011542063.1:c.1105+564A>G | XP_011540365.1:n.1105+564A>G | |
| XM_011542060.2:c.1171+163A>G | XP_011540362.1:n.1171+163A>G | |
| XM_011542063.2:c.1105+564A>G | XP_011540365.1:n.1105+564A>G | |
| XM_017002214.1:c.586+163A>G | XP_016857703.1:n.586+163A>G | |
| XM_017002215.1:c.520+564A>G | XP_016857704.1:n.520+564A>G | |
| NM_001066.3:c.1105+564A>G MANE Select | NP_001057.1:n.1105+564A>G |