HGVS | Genome Assembly |
---|---|
NC_000007.14:g.75769692G>A , CM000669.2:g.75769692G>A | GRCh38 |
NC_000007.13:g.75399010G>A , CM000669.1:g.75399010G>A | GRCh37 |
NC_000007.12:g.75236946G>A | NCBI36 |
NG_015989.1:g.25055C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000005180.9:c.*1C>T MANE Select | ENSP00000005180.4:n.*1C>T | |
ENST00000005180.8:c.*1C>T | ENSP00000005180.4:n.*1C>T | |
ENST00000394905.2:c.*1C>T | ENSP00000378365.2:n.*1C>T | |
NM_006072.4:c.*1C>T | NP_006063.1:n.*1C>T | |
XM_017011671.1:c.*1C>T | XP_016867160.1:n.*1C>T | |
XM_017011672.1:c.*1C>T | XP_016867161.1:n.*1C>T | |
NM_001371936.1:c.*1C>T | NP_001358865.1:n.*1C>T | |
NM_001371938.1:c.*1C>T MANE Select | NP_001358867.1:n.*1C>T |