HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520349T>C , CM000674.2:g.52520349T>C | GRCh38 |
NC_000012.11:g.52914133T>C , CM000674.1:g.52914133T>C | GRCh37 |
NC_000012.10:g.51200400T>C | NCBI36 |
NG_008297.1:g.5111A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.-53A>G MANE Select | ENSP00000252242.4:n.-53A>G | |
ENST00000252242.8:c.-53A>G | ENSP00000252242.4:n.-53A>G | |
ENST00000546577.1:c.-12-41A>G | ENSP00000449651.1:n.-12-41A>G | |
ENST00000549420.1:c.-53A>G | ENSP00000447209.1:n.-53A>G | |
ENST00000551275.1:c.-53A>G | ENSP00000448041.1:n.-53A>G | |
ENST00000552629.5:n.46A>G | ||
NM_000424.3:c.-53A>G | NP_000415.2:n.-53A>G | |
NM_000424.4:c.-53A>G MANE Select | NP_000415.2:n.-53A>G |