HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32104844C>A , CM000684.2:g.32104844C>A | GRCh38 |
NC_000022.10:g.32500831C>A , CM000684.1:g.32500831C>A | GRCh37 |
NC_000022.9:g.30830831C>A | NCBI36 |
NG_017045.1:g.66813C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266088.9:c.1724C>A MANE Select | ENSP00000266088.4:p.Ala575Glu | |
ENST00000266088.8:c.1724C>A | ENSP00000266088.4:p.Ala575Glu | |
ENST00000543737.2:c.1343C>A | ENSP00000444898.1:p.Ala448Glu | |
NM_000343.3:c.1724C>A | NP_000334.1:p.Ala575Glu | |
NM_001256314.1:c.1343C>A | NP_001243243.1:p.Ala448Glu | |
XR_938173.1:n.591+1994G>T | ||
XR_938174.1:n.486+15011G>T | ||
NM_000343.4:c.1724C>A MANE Select | NP_000334.1:p.Ala575Glu | |
NM_001256314.2:c.1343C>A | NP_001243243.1:p.Ala448Glu |