HGVS | Genome Assembly |
---|---|
NC_000004.12:g.156971716G>T , CM000666.2:g.156971716G>T | GRCh38 |
NC_000004.11:g.157892868G>T , CM000666.1:g.157892868G>T | GRCh37 |
NC_000004.10:g.158112318G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000502773.6:c.-813C>A MANE Select | ENSP00000422464.1:n.-813C>A | |
NM_016205.3:c.-813C>A MANE Select | NP_057289.1:n.-813C>A | |
NR_036641.2:n.84C>A |