HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021382C>A , CM000663.2:g.94021382C>A | GRCh38 |
NC_000001.10:g.94486938C>A , CM000663.1:g.94486938C>A | GRCh37 |
NC_000001.9:g.94259526C>A | NCBI36 |
NG_009073.1:g.104768G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.4876G>T MANE Select | ENSP00000359245.3:p.Ala1626Ser | |
ENST00000370225.3:c.4876G>T | ENSP00000359245.3:p.Ala1626Ser | |
ENST00000460514.1:n.370G>T | ||
ENST00000536513.5:c.1252G>T | ENSP00000439707.2:p.Ala418Ser | |
NM_000350.2:c.4876G>T | NP_000341.2:p.Ala1626Ser | |
NM_000350.3:c.4876G>T MANE Select | NP_000341.2:p.Ala1626Ser |