gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24912645 (NFE)
Genomes Max Group AF
0.24912645 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144377836G>A , CM000669.2:g.144377836G>A | GRCh38 |
| NC_000007.13:g.144074929G>A , CM000669.1:g.144074929G>A | GRCh37 |
| NC_000007.12:g.143705862G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000056217.10:c.4531+646G>A MANE Select | ENSP00000056217.5:n.4531+646G>A | |
| ENST00000056217.9:c.4531+646G>A | ENSP00000056217.5:n.4531+646G>A | |
| ENST00000471847.2:c.1297+646G>A | ENSP00000418227.1:n.1297+646G>A | |
| ENST00000474817.5:c.2130+646G>A | ||
| NM_005435.3:c.4531+646G>A | NP_005426.2:n.4531+646G>A | |
| NM_005435.4:c.4531+646G>A MANE Select | NP_005426.2:n.4531+646G>A |