gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09828344 (AFR)
Genomes Max Group AF
0.09828344 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68789314G>A , CM000673.2:g.68789314G>A | GRCh38 |
| NC_000011.9:g.68556782G>A , CM000673.1:g.68556782G>A | GRCh37 |
| NC_000011.8:g.68313358G>A | NCBI36 |
| NG_011801.1:g.57618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.967+4001C>T MANE Select | ENSP00000265641.4:n.967+4001C>T | |
| ENST00000265641.9:c.967+4001C>T | ENSP00000265641.4:n.967+4001C>T | |
| ENST00000376618.6:c.967+4001C>T | ENSP00000365803.2:n.967+4001C>T | |
| ENST00000538994.1:c.224-3279C>T | ENSP00000454332.1:n.224-3279C>T | |
| ENST00000539743.5:c.967+4001C>T | ENSP00000446108.1:n.967+4001C>T | |
| ENST00000540367.5:c.967+4001C>T | ENSP00000439084.1:n.967+4001C>T | |
| NM_001031847.2:c.967+4001C>T | NP_001027017.1:n.967+4001C>T | |
| NM_001876.3:c.967+4001C>T | NP_001867.2:n.967+4001C>T | |
| XM_005273762.1:c.1063+4001C>T | XP_005273819.1:n.1063+4001C>T | |
| XM_005273763.1:c.1063+4001C>T | XP_005273820.1:n.1063+4001C>T | |
| XM_005273762.3:c.1063+4001C>T | XP_005273819.1:n.1063+4001C>T | |
| XM_017017220.1:c.967+4001C>T | XP_016872709.1:n.967+4001C>T | |
| NM_001876.4:c.967+4001C>T MANE Select | NP_001867.2:n.967+4001C>T | |
| NM_001031847.3:c.967+4001C>T | NP_001027017.1:n.967+4001C>T |