HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527945T>G , CM000681.2:g.7527945T>G | GRCh38 |
NC_000019.9:g.7592831T>G , CM000681.1:g.7592831T>G | GRCh37 |
NC_000019.8:g.7498831T>G | NCBI36 |
NG_015806.1:g.10336T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.762T>G MANE Select | ENSP00000264079.5:p.Tyr254Ter | |
ENST00000264079.10:c.762T>G | ENSP00000264079.5:p.Tyr254Ter | |
ENST00000394321.9:n.1077T>G | ||
NM_020533.2:c.762T>G | NP_065394.1:p.Tyr254Ter | |
NM_020533.3:c.762T>G MANE Select | NP_065394.1:p.Tyr254Ter |