HGVS | Genome Assembly |
---|---|
NC_000020.11:g.62473309A>G , CM000682.2:g.62473309A>G | GRCh38 |
NC_000020.10:g.61048365A>G , CM000682.1:g.61048365A>G | GRCh37 |
NC_000020.9:g.60481760A>G | NCBI36 |
NG_046963.1:g.7662T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252997.3:c.699+94T>C MANE Select | ENSP00000252997.2:n.699+94T>C | |
ENST00000252997.2:c.699+94T>C | ENSP00000252997.2:n.699+94T>C | |
NM_080473.4:c.699+94T>C | NP_536721.1:n.699+94T>C | |
XM_006723699.2:c.699+94T>C | XP_006723762.1:n.699+94T>C | |
XM_006723699.3:c.699+94T>C | XP_006723762.1:n.699+94T>C | |
NM_080473.5:c.699+94T>C MANE Select | NP_536721.1:n.699+94T>C |