HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32104853A>C , CM000684.2:g.32104853A>C | GRCh38 |
NC_000022.10:g.32500840A>C , CM000684.1:g.32500840A>C | GRCh37 |
NC_000022.9:g.30830840A>C | NCBI36 |
NG_017045.1:g.66822A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266088.9:c.1733A>C MANE Select | ENSP00000266088.4:p.Glu578Ala | |
ENST00000266088.8:c.1733A>C | ENSP00000266088.4:p.Glu578Ala | |
ENST00000543737.2:c.1352A>C | ENSP00000444898.1:p.Glu451Ala | |
NM_000343.3:c.1733A>C | NP_000334.1:p.Glu578Ala | |
NM_001256314.1:c.1352A>C | NP_001243243.1:p.Glu451Ala | |
XR_938173.1:n.591+1985T>G | ||
XR_938174.1:n.486+15002T>G | ||
NM_000343.4:c.1733A>C MANE Select | NP_000334.1:p.Glu578Ala | |
NM_001256314.2:c.1352A>C | NP_001243243.1:p.Glu451Ala |