HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169158G>A , CM000683.2:g.43169158G>A | GRCh38 |
NG_009823.1:g.5128G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.59G>A MANE Select | ENSP00000291554.2:p.Ser20Asn | |
ENST00000482775.1:n.72G>A | ||
NM_000394.3:c.59G>A | NP_000385.1:p.Ser20Asn | |
XR_001755073.1:n.647+1879C>T | ||
NM_000394.4:c.59G>A MANE Select | NP_000385.1:p.Ser20Asn |