HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648134T>C , CM000673.2:g.69648134T>C | GRCh38 |
NC_000011.9:g.69462902T>C , CM000673.1:g.69462902T>C | GRCh37 |
NC_000011.8:g.69172083T>C | NCBI36 |
NG_007375.1:g.12030T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.715T>C MANE Select | ENSP00000227507.2:p.Cys239Arg | |
ENST00000227507.2:c.715T>C | ENSP00000227507.2:p.Cys239Arg | |
ENST00000536559.1:c.*135T>C | ENSP00000438482.1:n.*135T>C | |
ENST00000542367.1:n.178T>C | ||
ENST00000545484.1:n.421T>C | ||
NM_053056.2:c.715T>C | NP_444284.1:p.Cys239Arg | |
XM_006718653.2:c.739T>C | XP_006718716.1:p.Cys247Arg | |
NM_053056.3:c.715T>C MANE Select | NP_444284.1:p.Cys239Arg |