HGVS | Genome Assembly |
---|---|
NC_000011.10:g.74005424A>G , CM000673.2:g.74005424A>G | GRCh38 |
NC_000011.9:g.73716469A>G , CM000673.1:g.73716469A>G | GRCh37 |
NC_000011.8:g.73394117A>G | NCBI36 |
NG_011515.1:g.8814T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000314032.9:c.541+306T>C MANE Select | ENSP00000323740.4:n.541+306T>C | |
ENST00000314032.8:c.541+306T>C | ENSP00000323740.4:n.541+306T>C | |
ENST00000426995.2:c.541+306T>C | ENSP00000392143.2:n.541+306T>C | |
NM_003356.3:c.541+306T>C | NP_003347.1:n.541+306T>C | |
NM_022803.2:c.541+306T>C | NP_073714.1:n.541+306T>C | |
XR_950298.1:n.1768+9390A>G | ||
NM_003356.4:c.541+306T>C MANE Select | NP_003347.1:n.541+306T>C | |
NM_022803.3:c.541+306T>C | NP_073714.1:n.541+306T>C |