HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80451525T>A , CM000677.2:g.80451525T>A | GRCh38 |
NC_000015.9:g.80743866T>A , CM000677.1:g.80743866T>A | GRCh37 |
NC_000015.8:g.78530921T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303329.9:c.146+531T>A MANE Select | ENSP00000307479.4:n.146+531T>A | |
ENST00000303329.8:c.146+531T>A | ENSP00000307479.4:n.146+531T>A | |
ENST00000525103.1:c.-57+10147T>A | ENSP00000452961.1:n.-57+10147T>A | |
ENST00000527771.5:c.113+531T>A | ENSP00000453792.1:n.113+531T>A | |
ENST00000529181.1:n.312+531T>A | ||
ENST00000533983.5:c.113+531T>A | ENSP00000453651.1:n.113+531T>A | |
ENST00000610490.4:c.146+531T>A | ENSP00000483762.1:n.146+531T>A | |
ENST00000622346.4:c.146+531T>A | ENSP00000479393.1:n.146+531T>A | |
NM_014862.3:c.146+531T>A | NP_055677.3:n.146+531T>A | |
NM_014862.4:c.146+531T>A MANE Select | NP_055677.3:n.146+531T>A |