gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67179813 (SAS)
Genomes Max Group AF
0.67179813 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68066076C>A , CM000673.2:g.68066076C>A | GRCh38 |
| NC_000011.9:g.67833543C>A , CM000673.1:g.67833543C>A | GRCh37 |
| NC_000011.8:g.67590119C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265689.9:c.1017-182G>T MANE Select | ENSP00000265689.4:n.1017-182G>T | |
| ENST00000265689.8:c.1017-182G>T | ENSP00000265689.4:n.1017-182G>T | |
| ENST00000356135.9:c.963-182G>T | ENSP00000348454.4:n.963-182G>T | |
| ENST00000525155.5:c.33-182G>T | ENSP00000432631.1:n.33-182G>T | |
| NM_001277.2:c.1017-182G>T | NP_001268.2:n.1017-182G>T | |
| NM_212469.1:c.963-182G>T | NP_997634.1:n.963-182G>T | |
| XR_428904.2:n.1228-182G>T | ||
| XR_428905.1:n.2587-182G>T | ||
| XR_949772.1:n.1174-182G>T | ||
| XR_949773.1:n.1114-182G>T | ||
| XR_949774.1:n.1945-182G>T | ||
| XR_949775.1:n.2473-182G>T | ||
| XR_949776.1:n.403-182G>T | ||
| XR_949777.1:n.1326-182G>T | ||
| XM_017017147.1:c.903-182G>T | XP_016872636.1:n.903-182G>T | |
| XM_017017148.2:c.489-182G>T | XP_016872637.1:n.489-182G>T | |
| XR_428904.3:n.1229-182G>T | ||
| XR_428905.3:n.6801-182G>T | ||
| XR_949772.2:n.1157-182G>T | ||
| XR_949773.2:n.1115-182G>T | ||
| NM_001277.3:c.1017-182G>T MANE Select | NP_001268.2:n.1017-182G>T | |
| NM_001376219.1:c.1047-182G>T | NP_001363148.1:n.1047-182G>T | |
| NM_001376220.1:c.903-182G>T | NP_001363149.1:n.903-182G>T | |
| NM_001376221.1:c.651-182G>T | NP_001363150.1:n.651-182G>T | |
| NM_001376222.1:c.597-182G>T | NP_001363151.1:n.597-182G>T | |
| NM_212469.2:c.963-182G>T | NP_997634.1:n.963-182G>T | |
| NR_164782.1:n.1228-182G>T |