gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57699754 (AFR)
Genomes Max Group AF
0.57543198 (AFR)
Exomes Max Group AF
0.57459154 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136197833G>A , CM000671.2:g.136197833G>A | GRCh38 |
| NC_000009.11:g.139089679G>A , CM000671.1:g.139089679G>A | GRCh37 |
| NC_000009.10:g.138229500G>A | NCBI36 |
| NG_008097.1:g.12277C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371746.9:c.791-90C>T | ENSP00000360811.3:n.791-90C>T | |
| ENST00000371748.10:c.776-90C>T MANE Select | ENSP00000360813.4:n.776-90C>T | |
| ENST00000645419.1:n.1601-90C>T | ||
| ENST00000371746.7:c.791-90C>T | ENSP00000360811.3:n.791-90C>T | |
| ENST00000371748.9:c.776-90C>T | ENSP00000360813.4:n.776-90C>T | |
| ENST00000619587.1:c.743-90C>T | ENSP00000483080.1:n.743-90C>T | |
| NM_014564.3:c.791-90C>T | NP_055379.1:n.791-90C>T | |
| NM_178138.4:c.776-90C>T | NP_835258.1:n.776-90C>T | |
| XM_005263410.1:c.743-90C>T | XP_005263467.1:n.743-90C>T | |
| NM_001363746.1:c.743-90C>T | NP_001350675.1:n.743-90C>T | |
| NM_014564.4:c.791-90C>T | NP_055379.1:n.791-90C>T | |
| NM_178138.5:c.776-90C>T | NP_835258.1:n.776-90C>T | |
| XM_017015168.1:c.704-90C>T | XP_016870657.1:n.704-90C>T | |
| NM_178138.6:c.776-90C>T MANE Select | NP_835258.1:n.776-90C>T | |
| NM_014564.5:c.791-90C>T | NP_055379.1:n.791-90C>T |