HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169261C>T , CM000683.2:g.43169261C>T | GRCh38 |
NG_009823.1:g.5231C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.162C>T MANE Select | ENSP00000291554.2:p.Arg54= | |
ENST00000482775.1:n.175C>T | ||
NM_000394.3:c.162C>T | NP_000385.1:p.Arg54= | |
XR_001755073.1:n.647+1776G>A | ||
NM_000394.4:c.162C>T MANE Select | NP_000385.1:p.Arg54= |