HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129529324A>T , CM000665.2:g.129529324A>T | GRCh38 |
NC_000003.11:g.129248167A>T , CM000665.1:g.129248167A>T | GRCh37 |
NC_000003.10:g.130730857A>T | NCBI36 |
NG_009115.1:g.5686A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.361+230A>T MANE Select | ENSP00000296271.3:n.361+230A>T | |
ENST00000296271.3:c.361+230A>T | ENSP00000296271.3:n.361+230A>T | |
NM_000539.3:c.361+230A>T MANE Select | NP_000530.1:n.361+230A>T |