HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23043188G>T , CM000670.2:g.23043188G>T | GRCh38 |
NC_000008.10:g.22900701G>T , CM000670.1:g.22900701G>T | GRCh37 |
NC_000008.9:g.22956646G>T | NCBI36 |
NG_012145.1:g.31000C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276431.9:c.200C>A MANE Select | ENSP00000276431.4:p.Ala67Glu | |
ENST00000276431.8:c.200C>A | ENSP00000276431.4:p.Ala67Glu | |
ENST00000347739.3:c.200C>A | ENSP00000317859.3:p.Ala67Glu | |
ENST00000519028.1:n.328C>A | ||
ENST00000519910.1:n.207C>A | ||
ENST00000523504.5:c.145-12316C>A | ENSP00000427999.1:n.145-12316C>A | |
NM_003842.4:c.200C>A | NP_003833.4:p.Ala67Glu | |
NM_147187.2:c.200C>A | NP_671716.2:p.Ala67Glu | |
NR_027140.1:n.438-12316C>A | ||
XR_949500.1:n.493C>A | ||
NM_003842.5:c.200C>A MANE Select | NP_003833.4:p.Ala67Glu | |
NM_147187.3:c.200C>A | NP_671716.2:p.Ala67Glu | |
NR_027140.2:n.282-12316C>A |