HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63941102T>C , CM000679.2:g.63941102T>C | GRCh38 |
NC_000017.10:g.62018462T>C , CM000679.1:g.62018462T>C | GRCh37 |
NC_000017.9:g.59372194T>C | NCBI36 |
NG_011699.1:g.36817A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.5180A>G MANE Select | ENSP00000396320.1:p.Glu1727Gly | |
ENST00000578147.5:c.5180A>G | ENSP00000463963.1:p.Glu1727Gly | |
NM_000334.4:c.5180A>G MANE Select | NP_000325.4:p.Glu1727Gly | |
XM_005257566.3:c.5180A>G | XP_005257623.1:p.Glu1727Gly |