gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33526292 (AFR)
Genomes Max Group AF
0.33526292 (AFR)
Exomes Max Group AF
0.10444613 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7962137G>T , CM000663.2:g.7962137G>T | GRCh38 |
| NC_000001.10:g.8022197G>T , CM000663.1:g.8022197G>T | GRCh37 |
| NC_000001.9:g.7944784G>T | NCBI36 |
| NG_008271.1:g.5484G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.-24+344G>T MANE Select | ENSP00000340278.5:n.-24+344G>T | |
| ENST00000338639.9:c.-24+344G>T | ENSP00000340278.5:n.-24+344G>T | |
| ENST00000377488.5:c.-24+36G>T | ENSP00000366708.1:n.-24+36G>T | |
| ENST00000377491.5:c.-24+56G>T | ENSP00000366711.1:n.-24+56G>T | |
| ENST00000377493.9:c.-24+402G>T | ENSP00000466242.1:n.-24+402G>T | |
| ENST00000460192.5:n.73+402G>T | ||
| ENST00000465354.5:n.46+344G>T | ||
| ENST00000493373.5:c.-23-626G>T | ENSP00000465404.1:n.-23-626G>T | |
| ENST00000493678.5:c.-24+402G>T | ENSP00000418770.1:n.-24+402G>T | |
| NM_001123377.1:c.-24+402G>T | NP_001116849.1:n.-24+402G>T | |
| NM_007262.4:c.-24+344G>T | NP_009193.2:n.-24+344G>T | |
| XM_005263424.2:c.-24+56G>T | XP_005263481.1:n.-24+56G>T | |
| XM_005263424.3:c.-24+56G>T | XP_005263481.1:n.-24+56G>T | |
| NM_007262.5:c.-24+344G>T MANE Select | NP_009193.2:n.-24+344G>T | |
| NM_001123377.2:c.-24+402G>T | NP_001116849.1:n.-24+402G>T |