HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85581762C>A , CM000664.2:g.85581762C>A | GRCh38 |
NC_000002.11:g.85808885C>A , CM000664.1:g.85808885C>A | GRCh37 |
NC_000002.10:g.85662396C>A | NCBI36 |
NG_022887.1:g.9272C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263864.10:c.*46C>A MANE Select | ENSP00000263864.5:n.*46C>A | |
ENST00000263864.9:c.*46C>A | ENSP00000263864.5:n.*46C>A | |
ENST00000409760.1:c.*182C>A | ENSP00000387094.1:n.*182C>A | |
ENST00000432071.1:c.*46C>A | ENSP00000407984.1:n.*46C>A | |
NM_003761.4:c.*46C>A | NP_003752.2:n.*46C>A | |
XM_017005170.1:c.*182C>A | XP_016860659.1:n.*182C>A | |
NM_003761.5:c.*46C>A MANE Select | NP_003752.2:n.*46C>A |