HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96143602C>T , CM000664.2:g.96143602C>T | GRCh38 |
NC_000002.11:g.96809341C>T , CM000664.1:g.96809341C>T | GRCh37 |
NC_000002.10:g.96173068C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288943.5:c.*221G>A MANE Select | ENSP00000288943.4:n.*221G>A | |
ENST00000288943.4:c.*221G>A | ENSP00000288943.4:n.*221G>A | |
NM_004418.3:c.*221G>A | NP_004409.1:n.*221G>A | |
XM_017003546.1:c.*221G>A | XP_016859035.1:n.*221G>A | |
NM_004418.4:c.*221G>A MANE Select | NP_004409.1:n.*221G>A |