Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.56375775C>T , CM000673.2:g.56375775C>T | GRCh38 |
| NC_000011.9:g.56143251C>T , CM000673.1:g.56143251C>T | GRCh37 |
| NC_000011.8:g.55899827C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302270.1:c.152C>T MANE Select | ENSP00000304188.1:p.Ala51Val | |
| NM_001005204.1:c.152C>T MANE Select | NP_001005204.1:p.Ala51Val |