gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5711798 (AMR)
Genomes Max Group AF
0.51881334 (AMR)
Exomes Max Group AF
0.5992066 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15035602A>G , CM000678.2:g.15035602A>G | GRCh38 |
| NC_000016.9:g.15129459A>G , CM000678.1:g.15129459A>G | GRCh37 |
| NC_000016.8:g.15036960A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396410.9:c.2107+49A>G MANE Select | ENSP00000379691.4:n.2107+49A>G | |
| ENST00000396410.8:c.2107+49A>G | ENSP00000379691.4:n.2107+49A>G | |
| ENST00000450288.3:c.1834+49A>G | ENSP00000391147.3:n.1834+49A>G | |
| ENST00000535621.6:c.1399+5546A>G | ENSP00000437835.2:n.1399+5546A>G | |
| ENST00000562119.5:c.*396+49A>G | ENSP00000455486.1:n.*396+49A>G | |
| ENST00000563679.5:c.2161+49A>G | ENSP00000454791.1:n.2161+49A>G | |
| ENST00000565986.1:n.489+49A>G | ||
| ENST00000569715.5:c.2026+49A>G | ENSP00000455070.1:n.2026+49A>G | |
| ENST00000570001.5:n.3156+49A>G | ||
| ENST00000627450.2:c.2023+49A>G | ENSP00000486662.1:n.2023+49A>G | |
| NM_001285444.1:c.2026+49A>G | NP_001272373.1:n.2026+49A>G | |
| NM_001285445.1:c.2023+49A>G | NP_001272374.1:n.2023+49A>G | |
| NM_001285447.1:c.2062+49A>G | NP_001272376.1:n.2062+49A>G | |
| NM_001285448.1:c.1834+49A>G | NP_001272377.1:n.1834+49A>G | |
| NM_001285449.1:c.1399+5546A>G | NP_001272378.1:n.1399+5546A>G | |
| NM_015027.3:c.2107+49A>G | NP_055842.2:n.2107+49A>G | |
| XM_005255173.1:c.2161+49A>G | XP_005255230.1:n.2161+49A>G | |
| XM_005255176.2:c.2062+49A>G | XP_005255233.1:n.2062+49A>G | |
| XM_006720865.2:c.1981+49A>G | XP_006720928.2:n.1981+49A>G | |
| XM_011522428.1:c.2161+49A>G | XP_011520730.1:n.2161+49A>G | |
| NM_001324019.1:c.2104+49A>G | NP_001310948.1:n.2104+49A>G | |
| NM_001324020.1:c.1396+5546A>G | NP_001310949.1:n.1396+5546A>G | |
| NM_001324021.1:c.1318+5546A>G | NP_001310950.1:n.1318+5546A>G | |
| XM_005255176.3:c.2062+49A>G | XP_005255233.1:n.2062+49A>G | |
| XM_017023059.1:c.2062+49A>G | XP_016878548.1:n.2062+49A>G | |
| XM_017023060.1:c.2134+49A>G | XP_016878549.1:n.2134+49A>G | |
| XM_017023061.2:c.2062+49A>G | XP_016878550.1:n.2062+49A>G | |
| XM_017023062.1:c.2062+49A>G | XP_016878551.1:n.2062+49A>G | |
| XM_017023063.1:c.2062+49A>G | XP_016878552.1:n.2062+49A>G | |
| XM_017023064.1:c.1981+49A>G | XP_016878553.1:n.1981+49A>G | |
| XM_017023065.1:c.1354+5546A>G | XP_016878554.1:n.1354+5546A>G | |
| XM_024450194.1:c.1354+5546A>G | XP_024305962.1:n.1354+5546A>G | |
| XM_024450195.1:c.1453+5546A>G | XP_024305963.1:n.1453+5546A>G | |
| XM_024450196.1:c.1426+5546A>G | XP_024305964.1:n.1426+5546A>G | |
| XM_024450197.1:c.1273+5546A>G | XP_024305965.1:n.1273+5546A>G | |
| NM_001285444.2:c.2026+49A>G | NP_001272373.1:n.2026+49A>G | |
| NM_001285445.2:c.2023+49A>G | NP_001272374.1:n.2023+49A>G | |
| NM_001324019.2:c.2104+49A>G | NP_001310948.1:n.2104+49A>G | |
| NM_015027.4:c.2107+49A>G MANE Select | NP_055842.2:n.2107+49A>G | |
| NM_001285449.2:c.1399+5546A>G | NP_001272378.1:n.1399+5546A>G | |
| NM_001324020.2:c.1396+5546A>G | NP_001310949.1:n.1396+5546A>G | |
| NM_001324021.2:c.1318+5546A>G | NP_001310950.1:n.1318+5546A>G |