HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527943T>G , CM000681.2:g.7527943T>G | GRCh38 |
NC_000019.9:g.7592829T>G , CM000681.1:g.7592829T>G | GRCh37 |
NC_000019.8:g.7498829T>G | NCBI36 |
NG_015806.1:g.10334T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.760T>G MANE Select | ENSP00000264079.5:p.Tyr254Asp | |
ENST00000264079.10:c.760T>G | ENSP00000264079.5:p.Tyr254Asp | |
ENST00000394321.9:n.1075T>G | ||
NM_020533.2:c.760T>G | NP_065394.1:p.Tyr254Asp | |
NM_020533.3:c.760T>G MANE Select | NP_065394.1:p.Tyr254Asp |