HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63968324C>T , CM000679.2:g.63968324C>T | GRCh38 |
NC_000017.10:g.62045684C>T , CM000679.1:g.62045684C>T | GRCh37 |
NC_000017.9:g.59399416C>T | NCBI36 |
NG_011699.1:g.9595G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.735G>A MANE Select | ENSP00000396320.1:p.Gln245= | |
ENST00000578147.5:c.735G>A | ENSP00000463963.1:p.Gln245= | |
NM_000334.4:c.735G>A MANE Select | NP_000325.4:p.Gln245= | |
XM_005257566.3:c.735G>A | XP_005257623.1:p.Gln245= |