HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7581500C>A , CM000679.2:g.7581500C>A | GRCh38 |
NC_000017.10:g.7484818C>A , CM000679.1:g.7484818C>A | GRCh37 |
NC_000017.9:g.7425542C>A | NCBI36 |
NG_009204.1:g.2854C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000250092.11:c.1054C>A MANE Select | ENSP00000250092.6:p.Gln352Lys | |
ENST00000250092.10:c.1054C>A | ENSP00000250092.6:p.Gln352Lys | |
ENST00000380498.10:c.973C>A | ENSP00000369867.6:p.Gln325Lys | |
ENST00000584180.1:c.769C>A | ||
NM_001040059.1:c.973C>A | NP_001035148.1:p.Gln325Lys | |
NM_001251.2:c.1054C>A | NP_001242.2:p.Gln352Lys | |
NM_001251.3:c.1054C>A MANE Select | NP_001242.2:p.Gln352Lys | |
NM_001040059.2:c.973C>A | NP_001035148.1:p.Gln325Lys |