HGVS | Genome Assembly |
---|---|
NC_000008.11:g.11564602T>C , CM000670.2:g.11564602T>C | GRCh38 |
NC_000008.10:g.11422111T>C , CM000670.1:g.11422111T>C | GRCh37 |
NC_000008.9:g.11459520T>C | NCBI36 |
NG_023543.1:g.75591T>C | |
NG_023543.2:g.75591T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259089.8:c.*494T>C | ENSP00000259089.4:n.*494T>C | |
NM_001330465.1:c.*494T>C | NP_001317394.1:n.*494T>C |