HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648052A>T , CM000673.2:g.69648052A>T | GRCh38 |
NC_000011.9:g.69462820A>T , CM000673.1:g.69462820A>T | GRCh37 |
NC_000011.8:g.69172001A>T | NCBI36 |
NG_007375.1:g.11948A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227507.3:c.633A>T MANE Select | ENSP00000227507.2:p.Ala211= | |
ENST00000227507.2:c.633A>T | ENSP00000227507.2:p.Ala211= | |
ENST00000536559.1:c.*53A>T | ENSP00000438482.1:n.*53A>T | |
ENST00000542367.1:n.96A>T | ||
ENST00000545484.1:n.339A>T | ||
NM_053056.2:c.633A>T | NP_444284.1:p.Ala211= | |
XM_006718653.2:c.657A>T | XP_006718716.1:p.Ala219= | |
NM_053056.3:c.633A>T MANE Select | NP_444284.1:p.Ala211= |