Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866909A>G , CM000686.2:g.2866909A>G | GRCh38 |
| NC_000024.9:g.2734950A>G , CM000686.1:g.2734950A>G | GRCh37 |
| NC_000024.8:g.2794950A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.*15A>G MANE Select | ENSP00000250784.7:n.*15A>G | |
| ENST00000250784.12:c.*15A>G | ENSP00000250784.7:n.*15A>G | |
| ENST00000477725.1:n.951A>G | ||
| ENST00000515575.1:n.42+12138A>G | ||
| NM_001008.3:c.*15A>G | NP_000999.1:n.*15A>G | |
| NM_001008.4:c.*15A>G MANE Select | NP_000999.1:n.*15A>G |