HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2251556C>T , CM000681.2:g.2251556C>T | GRCh38 |
NC_000019.9:g.2251555C>T , CM000681.1:g.2251555C>T | GRCh37 |
NC_000019.8:g.2202555C>T | NCBI36 |
NG_012190.1:g.7443C>T | |
NG_032853.1:g.9868G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221496.5:c.1282C>T MANE Select | ENSP00000221496.2:p.Leu428= | |
ENST00000221496.4:c.1282C>T | ENSP00000221496.2:p.Leu428= | |
ENST00000589313.2:n.1635C>T | ||
NM_000479.3:c.1282C>T | NP_000470.2:p.Leu428= | |
NM_000479.4:c.1282C>T | NP_000470.2:p.Leu428= | |
NM_000479.5:c.1282C>T MANE Select | NP_000470.3:p.Leu428= |