Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2867074C>A , CM000686.2:g.2867074C>A | GRCh38 |
| NC_000024.9:g.2735115C>A , CM000686.1:g.2735115C>A | GRCh37 |
| NC_000024.8:g.2795115C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.*180C>A MANE Select | ENSP00000250784.7:n.*180C>A | |
| ENST00000250784.12:c.*180C>A | ENSP00000250784.7:n.*180C>A | |
| ENST00000515575.1:n.42+12303C>A | ||
| NM_001008.4:c.*180C>A MANE Select | NP_000999.1:n.*180C>A |