HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169039C>T , CM000683.2:g.43169039C>T | GRCh38 |
NG_009823.1:g.5009C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.-61C>T MANE Select | ENSP00000291554.2:n.-61C>T | |
NM_000394.3:c.-61C>T | NP_000385.1:n.-61C>T | |
XR_001755073.1:n.647+1998G>A | ||
NM_000394.4:c.-61C>T MANE Select | NP_000385.1:n.-61C>T |