gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20155887 (AFR)
Genomes Max Group AF
0.20155887 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4015370C>A , CM000671.2:g.4015370C>A | GRCh38 |
| NC_000009.11:g.4015370C>A , CM000671.1:g.4015370C>A | GRCh37 |
| NC_000009.10:g.4005370C>A | NCBI36 |
| NG_011782.1:g.289666G>T | |
| NG_011782.2:g.289666G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464391.2:n.144+65858G>T | ||
| ENST00000491889.6:c.*1074-78181G>T | ENSP00000419914.1:n.*1074-78181G>T | |
| ENST00000645252.2:n.153-78181G>T | ||
| ENST00000682749.1:c.1246-78181G>T | ENSP00000507306.1:n.1246-78181G>T | |
| ENST00000682846.1:c.131+110364G>T | ENSP00000507527.1:n.131+110364G>T | |
| ENST00000682864.1:n.110+65858G>T | ||
| ENST00000381971.8:c.1711-78181G>T MANE Select | ENSP00000371398.3:n.1711-78181G>T | |
| ENST00000645252.1:n.153-78181G>T | ||
| ENST00000324333.14:c.1246-78181G>T | ENSP00000325494.10:n.1246-78181G>T | |
| ENST00000381971.7:c.1711-78181G>T | ENSP00000371398.3:n.1711-78181G>T | |
| ENST00000464391.1:n.134+65858G>T | ||
| ENST00000467497.6:n.251-78181G>T | ||
| ENST00000469833.1:n.677+19157G>T | ||
| NM_001042413.1:c.1711-78181G>T | NP_001035878.1:n.1711-78181G>T | |
| NM_152629.3:c.1246-78181G>T | NP_689842.3:n.1246-78181G>T | |
| XM_005251386.3:c.1246-78181G>T | XP_005251443.1:n.1246-78181G>T | |
| XM_005251387.3:c.1045-78181G>T | XP_005251444.1:n.1045-78181G>T | |
| XM_005251388.3:c.1045-78181G>T | XP_005251445.1:n.1045-78181G>T | |
| XM_011517763.1:c.1711-78181G>T | XP_011516065.1:n.1711-78181G>T | |
| XM_011517764.1:c.1711-78181G>T | XP_011516066.1:n.1711-78181G>T | |
| XM_011517765.1:c.1711-78181G>T | XP_011516067.1:n.1711-78181G>T | |
| XM_011517766.1:c.1246-78181G>T | XP_011516068.1:n.1246-78181G>T | |
| XM_011517767.1:c.1045-78181G>T | XP_011516069.1:n.1045-78181G>T | |
| XM_005251386.4:c.1246-78181G>T | XP_005251443.1:n.1246-78181G>T | |
| XM_005251387.4:c.1045-78181G>T | XP_005251444.1:n.1045-78181G>T | |
| XM_005251388.4:c.1045-78181G>T | XP_005251445.1:n.1045-78181G>T | |
| XM_011517763.2:c.1711-78181G>T | XP_011516065.1:n.1711-78181G>T | |
| XM_011517764.2:c.1711-78181G>T | XP_011516066.1:n.1711-78181G>T | |
| XM_011517765.2:c.1711-78181G>T | XP_011516067.1:n.1711-78181G>T | |
| XM_011517766.2:c.1246-78181G>T | XP_011516068.1:n.1246-78181G>T | |
| XM_011517767.3:c.1045-78181G>T | XP_011516069.1:n.1045-78181G>T | |
| XM_017014361.1:c.1246-78181G>T | XP_016869850.1:n.1246-78181G>T | |
| NM_001042413.2:c.1711-78181G>T MANE Select | NP_001035878.1:n.1711-78181G>T | |
| NM_152629.4:c.1246-78181G>T | NP_689842.3:n.1246-78181G>T |