HGVS | Genome Assembly |
---|---|
NC_000012.12:g.66250260C>A , CM000674.2:g.66250260C>A | GRCh38 |
NC_000012.11:g.66644040C>A , CM000674.1:g.66644040C>A | GRCh37 |
NC_000012.10:g.64930307C>A | NCBI36 |
NG_021194.1:g.66063C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261233.9:c.*2089C>A MANE Select | ENSP00000261233.4:n.*2089C>A | |
ENST00000261233.8:c.*2089C>A | ENSP00000261233.4:n.*2089C>A | |
NM_001142523.1:c.*2089C>A | NP_001135995.1:n.*2089C>A | |
NM_007199.2:c.*2089C>A | NP_009130.2:n.*2089C>A | |
NM_001142523.2:c.*2089C>A | NP_001135995.1:n.*2089C>A | |
NM_007199.3:c.*2089C>A MANE Select | NP_009130.2:n.*2089C>A |