Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.156971749C>A , CM000666.2:g.156971749C>A | GRCh38 |
| NC_000004.11:g.157892901C>A , CM000666.1:g.157892901C>A | GRCh37 |
| NC_000004.10:g.158112351C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502773.6:c.-846G>T MANE Select | ENSP00000422464.1:n.-846G>T | |
| NM_016205.3:c.-846G>T MANE Select | NP_057289.1:n.-846G>T | |
| NR_036641.2:n.51G>T |