HGVS | Genome Assembly |
---|---|
NC_000004.12:g.288653T>C , CM000666.2:g.288653T>C | GRCh38 |
NC_000004.11:g.282442T>C , CM000666.1:g.282442T>C | GRCh37 |
NC_000004.10:g.272442T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000419098.6:c.226+6785A>G MANE Select | ENSP00000415774.1:n.226+6785A>G | |
ENST00000419098.5:c.226+6785A>G | ENSP00000415774.1:n.226+6785A>G | |
ENST00000619749.1:c.223+6785A>G | ENSP00000478210.1:n.223+6785A>G | |
NM_001137608.1:c.226+6785A>G | NP_001131080.1:n.226+6785A>G | |
NM_001137608.2:c.226+6785A>G | NP_001131080.1:n.226+6785A>G | |
NM_001137608.3:c.226+6785A>G MANE Select | NP_001131080.1:n.226+6785A>G |