HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58575548C>T , CM000663.2:g.58575548C>T | GRCh38 |
NC_000001.10:g.59041220C>T , CM000663.1:g.59041220C>T | GRCh37 |
NC_000001.9:g.58813808C>T | NCBI36 |
NG_016237.1:g.6947G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371225.4:c.*637G>A MANE Select | ENSP00000360269.2:n.*637G>A | |
ENST00000371225.3:c.*637G>A | ENSP00000360269.2:n.*637G>A | |
NM_002353.2:c.*637G>A | NP_002344.2:n.*637G>A | |
NM_002353.3:c.*637G>A MANE Select | NP_002344.2:n.*637G>A |