HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32104887A>C , CM000684.2:g.32104887A>C | GRCh38 |
NC_000022.10:g.32500874A>C , CM000684.1:g.32500874A>C | GRCh37 |
NC_000022.9:g.30830874A>C | NCBI36 |
NG_017045.1:g.66856A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266088.9:c.1767A>C MANE Select | ENSP00000266088.4:p.Glu589Asp | |
ENST00000266088.8:c.1767A>C | ENSP00000266088.4:p.Glu589Asp | |
ENST00000543737.2:c.1386A>C | ENSP00000444898.1:p.Glu462Asp | |
NM_000343.3:c.1767A>C | NP_000334.1:p.Glu589Asp | |
NM_001256314.1:c.1386A>C | NP_001243243.1:p.Glu462Asp | |
XR_938173.1:n.591+1951T>G | ||
XR_938174.1:n.486+14968T>G | ||
NM_000343.4:c.1767A>C MANE Select | NP_000334.1:p.Glu589Asp | |
NM_001256314.2:c.1386A>C | NP_001243243.1:p.Glu462Asp |