HGVS | Genome Assembly |
---|---|
NC_000020.11:g.4235040C>T , CM000682.2:g.4235040C>T | GRCh38 |
NC_000020.10:g.4215687C>T , CM000682.1:g.4215687C>T | GRCh37 |
NC_000020.9:g.4163687C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379453.6:c.1111+12807G>A MANE Select | ENSP00000368766.4:n.1111+12807G>A | |
ENST00000379453.5:c.1111+12807G>A | ENSP00000368766.4:n.1111+12807G>A | |
NM_000678.3:c.1111+12807G>A | NP_000669.1:n.1111+12807G>A | |
NM_000678.4:c.1111+12807G>A MANE Select | NP_000669.1:n.1111+12807G>A |