Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866899C>A , CM000686.2:g.2866899C>A | GRCh38 |
| NC_000024.9:g.2734940C>A , CM000686.1:g.2734940C>A | GRCh37 |
| NC_000024.8:g.2794940C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.*5C>A MANE Select | ENSP00000250784.7:n.*5C>A | |
| ENST00000250784.12:c.*5C>A | ENSP00000250784.7:n.*5C>A | |
| ENST00000477725.1:n.941C>A | ||
| ENST00000515575.1:n.42+12128C>A | ||
| NM_001008.3:c.*5C>A | NP_000999.1:n.*5C>A | |
| NM_001008.4:c.*5C>A MANE Select | NP_000999.1:n.*5C>A |