Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61531775C>G , CM000682.2:g.61531775C>G | GRCh38 |
| NC_000020.10:g.60106831C>G , CM000682.1:g.60106831C>G | GRCh37 |
| NC_000020.9:g.59540226C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614565.5:c.170-211788C>G MANE Select | ENSP00000484928.1:n.170-211788C>G | |
| ENST00000614565.4:c.170-211788C>G | ENSP00000484928.1:n.170-211788C>G | |
| NM_001252338.2:c.58+32283C>G | NP_001239267.1:n.58+32283C>G | |
| NM_001794.4:c.170-211788C>G | NP_001785.2:n.170-211788C>G | |
| NM_001794.5:c.170-211788C>G MANE Select | NP_001785.2:n.170-211788C>G |