HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32115525G>A , CM000668.2:g.32115525G>A | GRCh38 |
NC_000006.11:g.32083302G>A , CM000668.1:g.32083302G>A | GRCh37 |
NC_000006.10:g.32191280G>A | NCBI36 |
NG_033940.1:g.17716C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375203.8:c.*214C>T MANE Select | ENSP00000364349.3:n.*214C>T | |
ENST00000453203.2:c.*465C>T | ENSP00000393419.2:n.*465C>T | |
ENST00000375201.8:c.*214C>T | ENSP00000364347.4:n.*214C>T | |
ENST00000375203.7:c.*214C>T | ENSP00000364349.3:n.*214C>T | |
ENST00000494022.1:n.289+1179C>T | ||
NM_001136153.1:c.*214C>T | NP_001129625.1:n.*214C>T | |
NM_004381.4:c.*214C>T | NP_004372.3:n.*214C>T | |
NM_004381.5:c.*214C>T MANE Select | NP_004372.3:n.*214C>T | |
NM_001136153.2:c.*214C>T | NP_001129625.1:n.*214C>T |