HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32104854G>C , CM000684.2:g.32104854G>C | GRCh38 |
NC_000022.10:g.32500841G>C , CM000684.1:g.32500841G>C | GRCh37 |
NC_000022.9:g.30830841G>C | NCBI36 |
NG_017045.1:g.66823G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266088.9:c.1734G>C MANE Select | ENSP00000266088.4:p.Glu578Asp | |
ENST00000266088.8:c.1734G>C | ENSP00000266088.4:p.Glu578Asp | |
ENST00000543737.2:c.1353G>C | ENSP00000444898.1:p.Glu451Asp | |
NM_000343.3:c.1734G>C | NP_000334.1:p.Glu578Asp | |
NM_001256314.1:c.1353G>C | NP_001243243.1:p.Glu451Asp | |
XR_938173.1:n.591+1984C>G | ||
XR_938174.1:n.486+15001C>G | ||
NM_000343.4:c.1734G>C MANE Select | NP_000334.1:p.Glu578Asp | |
NM_001256314.2:c.1353G>C | NP_001243243.1:p.Glu451Asp |