HGVS | Genome Assembly |
---|---|
NC_000020.11:g.62473320T>A , CM000682.2:g.62473320T>A | GRCh38 |
NC_000020.10:g.61048376T>A , CM000682.1:g.61048376T>A | GRCh37 |
NC_000020.9:g.60481771T>A | NCBI36 |
NG_046963.1:g.7651A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252997.3:c.699+83A>T MANE Select | ENSP00000252997.2:n.699+83A>T | |
ENST00000252997.2:c.699+83A>T | ENSP00000252997.2:n.699+83A>T | |
NM_080473.4:c.699+83A>T | NP_536721.1:n.699+83A>T | |
XM_006723699.2:c.699+83A>T | XP_006723762.1:n.699+83A>T | |
XM_006723699.3:c.699+83A>T | XP_006723762.1:n.699+83A>T | |
NM_080473.5:c.699+83A>T MANE Select | NP_536721.1:n.699+83A>T |