HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352171C>G , CM000679.2:g.44352171C>G | GRCh38 |
NC_000017.10:g.42429539C>G , CM000679.1:g.42429539C>G | GRCh37 |
NC_000017.9:g.39785065C>G | NCBI36 |
NG_007886.1:g.12049C>G , LRG_661:g.12049C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1336C>G MANE Select | ENSP00000053867.2:p.Gln446Glu | |
ENST00000639447.1:c.1137-358C>G | ENSP00000492014.1:n.1137-358C>G | |
ENST00000053867.7:c.1336C>G | ENSP00000053867.2:p.Gln446Glu | |
ENST00000586443.1:c.777C>G | ||
ENST00000589265.5:c.865C>G | ENSP00000467616.1:p.Gln289Glu | |
NM_002087.3:c.1336C>G | NP_002078.1:p.Gln446Glu | |
XM_005257253.1:c.1336C>G | XP_005257310.1:p.Gln446Glu | |
XM_024450730.1:c.1336C>G | XP_024306498.1:p.Gln446Glu | |
NM_002087.4:c.1336C>G MANE Select | NP_002078.1:p.Gln446Glu |