Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.156971740C>T , CM000666.2:g.156971740C>T | GRCh38 |
| NC_000004.11:g.157892892C>T , CM000666.1:g.157892892C>T | GRCh37 |
| NC_000004.10:g.158112342C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502773.6:c.-837G>A MANE Select | ENSP00000422464.1:n.-837G>A | |
| NM_016205.3:c.-837G>A MANE Select | NP_057289.1:n.-837G>A | |
| NR_036641.2:n.60G>A |