HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322496C>A , CM000677.2:g.73322496C>A | GRCh38 |
NC_000015.9:g.73614837C>A , CM000677.1:g.73614837C>A | GRCh37 |
NC_000015.8:g.71401890C>A | NCBI36 |
NG_009063.1:g.51769G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3597G>T MANE Select | ENSP00000261917.3:p.Leu1199= | |
ENST00000261917.3:c.3597G>T | ENSP00000261917.3:p.Leu1199= | |
NM_005477.2:c.3597G>T | NP_005468.1:p.Leu1199= | |
XM_011521148.1:c.2379G>T | XP_011519450.1:p.Leu793= | |
XM_011521148.2:c.2379G>T | XP_011519450.1:p.Leu793= | |
NM_005477.3:c.3597G>T MANE Select | NP_005468.1:p.Leu1199= |