HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71983535A>G , CM000674.2:g.71983535A>G | GRCh38 |
NC_000012.11:g.72377315A>G , CM000674.1:g.72377315A>G | GRCh37 |
NC_000012.10:g.70663582A>G | NCBI36 |
NG_008279.1:g.49690A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333850.4:c.941+4448A>G MANE Select | ENSP00000329093.3:n.941+4448A>G | |
ENST00000333850.3:c.941+4448A>G | ENSP00000329093.3:n.941+4448A>G | |
NM_173353.3:c.941+4448A>G | NP_775489.2:n.941+4448A>G | |
XM_011537899.1:c.347+4448A>G | XP_011536201.1:n.347+4448A>G | |
NM_173353.4:c.941+4448A>G MANE Select | NP_775489.2:n.941+4448A>G |