gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23737642 (AFR)
Genomes Max Group AF
0.23737642 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3271278A>C , CM000682.2:g.3271278A>C | GRCh38 |
| NC_000020.10:g.3251924A>C , CM000682.1:g.3251924A>C | GRCh37 |
| NC_000020.9:g.3199924A>C | NCBI36 |
| NG_031974.1:g.141386T>G | |
| NG_031974.2:g.141385T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252032.10:c.2651-716T>G MANE Select | ENSP00000252032.9:n.2651-716T>G | |
| ENST00000252032.9:c.2651-716T>G | ENSP00000252032.9:n.2651-716T>G | |
| NM_001009984.2:c.2651-716T>G | NP_001009984.1:n.2651-716T>G | |
| XM_005260684.2:c.2648-716T>G | XP_005260741.1:n.2648-716T>G | |
| XM_005260687.3:c.896-716T>G | XP_005260744.1:n.896-716T>G | |
| XM_006723556.2:c.2573-716T>G | XP_006723619.1:n.2573-716T>G | |
| XM_011529207.1:c.1673-716T>G | XP_011527509.1:n.1673-716T>G | |
| XM_011529208.1:c.896-716T>G | XP_011527510.1:n.896-716T>G | |
| XM_005260684.4:c.2648-716T>G | XP_005260741.1:n.2648-716T>G | |
| XM_005260687.5:c.896-716T>G | XP_005260744.1:n.896-716T>G | |
| XM_011529208.3:c.896-716T>G | XP_011527510.1:n.896-716T>G | |
| XM_017027783.2:c.1673-716T>G | XP_016883272.1:n.1673-716T>G | |
| XR_001754226.2:n.2665-716T>G | ||
| NM_001009984.3:c.2651-716T>G MANE Select | NP_001009984.1:n.2651-716T>G |