HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6097006C>A , CM000682.2:g.6097006C>A | GRCh38 |
NC_000020.10:g.6077653C>A , CM000682.1:g.6077653C>A | GRCh37 |
NC_000020.9:g.6025653C>A | NCBI36 |
NG_016213.1:g.31539G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699095.1:c.985G>T | ENSP00000514127.1:p.Ala329Ser | |
ENST00000699096.1:n.1447G>T | ||
ENST00000699097.1:n.155G>T | ||
ENST00000217289.9:c.985G>T MANE Select | ENSP00000217289.4:p.Ala329Ser | |
ENST00000217289.8:c.985G>T | ENSP00000217289.4:p.Ala329Ser | |
ENST00000536936.1:c.214G>T | ENSP00000441063.1:p.Ala72Ser | |
NM_017671.4:c.985G>T | NP_060141.3:p.Ala329Ser | |
XM_024451935.1:c.985G>T | XP_024307703.1:p.Ala329Ser | |
NM_017671.5:c.985G>T MANE Select | NP_060141.3:p.Ala329Ser |