gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108878275C>A , CM000674.2:g.108878275C>A | GRCh38 |
| NC_000012.11:g.109272051C>A , CM000674.1:g.109272051C>A | GRCh37 |
| NC_000012.10:g.107796180C>A | NCBI36 |
| NG_023236.1:g.3195C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000548052.5:n.349-1288C>A | ||
| ENST00000551281.5:c.-9-6723C>A | ENSP00000446853.1:n.-9-6723C>A |