Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61531811C>A , CM000682.2:g.61531811C>A | GRCh38 |
| NC_000020.10:g.60106867C>A , CM000682.1:g.60106867C>A | GRCh37 |
| NC_000020.9:g.59540262C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.170-211752C>A MANE Select | ENSP00000484928.1:n.170-211752C>A | |
| ENST00000614565.4:c.170-211752C>A | ENSP00000484928.1:n.170-211752C>A | |
| NM_001252338.2:c.58+32319C>A | NP_001239267.1:n.58+32319C>A | |
| NM_001794.4:c.170-211752C>A | NP_001785.2:n.170-211752C>A | |
| NM_001794.5:c.170-211752C>A MANE Select | NP_001785.2:n.170-211752C>A |