HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63941975A>C , CM000679.2:g.63941975A>C | GRCh38 |
NC_000017.10:g.62019335A>C , CM000679.1:g.62019335A>C | GRCh37 |
NC_000017.9:g.59373067A>C | NCBI36 |
NG_011699.1:g.35944T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.4307T>G MANE Select | ENSP00000396320.1:p.Leu1436Arg | |
ENST00000578147.5:c.4307T>G | ENSP00000463963.1:p.Leu1436Arg | |
NM_000334.4:c.4307T>G MANE Select | NP_000325.4:p.Leu1436Arg | |
XM_005257566.3:c.4307T>G | XP_005257623.1:p.Leu1436Arg |