HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74755341A>T , CM000677.2:g.74755341A>T | GRCh38 |
NC_000015.9:g.75047682A>T , CM000677.1:g.75047682A>T | GRCh37 |
NC_000015.8:g.72834735A>T | NCBI36 |
NG_008431.1:g.37800A>T | |
NG_008431.2:g.37800A>T | |
NG_061543.1:g.11497A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.*253A>T MANE Select | ENSP00000342007.4:n.*253A>T | |
ENST00000343932.4:c.*253A>T | ENSP00000342007.4:n.*253A>T | |
NM_000761.4:c.*253A>T | NP_000752.2:n.*253A>T | |
NM_000761.5:c.*253A>T MANE Select | NP_000752.2:n.*253A>T |