HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169106G>T , CM000683.2:g.43169106G>T | GRCh38 |
NG_009823.1:g.5076G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.7G>T MANE Select | ENSP00000291554.2:p.Val3Leu | |
ENST00000482775.1:n.20G>T | ||
NM_000394.3:c.7G>T | NP_000385.1:p.Val3Leu | |
XR_001755073.1:n.647+1931C>A | ||
NM_000394.4:c.7G>T MANE Select | NP_000385.1:p.Val3Leu |