HGVS | Genome Assembly |
---|---|
NC_000012.12:g.107001278A>C , CM000674.2:g.107001278A>C | GRCh38 |
NC_000012.11:g.107395056A>C , CM000674.1:g.107395056A>C | GRCh37 |
NC_000012.10:g.105919186A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000008527.10:c.684+2T>G MANE Select | ENSP00000008527.5:n.684+2T>G | |
ENST00000008527.9:c.684+2T>G | ENSP00000008527.5:n.684+2T>G | |
ENST00000546722.1:n.177+2T>G | ||
ENST00000552790.5:n.1243+2T>G | ||
NM_004075.4:c.684+2T>G | NP_004066.1:n.684+2T>G | |
XM_011537939.1:c.600+2T>G | XP_011536241.1:n.600+2T>G | |
XM_017018832.2:c.600+2T>G | XP_016874321.1:n.600+2T>G | |
XM_024448844.1:c.684+2T>G | XP_024304612.1:n.684+2T>G | |
XM_024448845.1:c.600+2T>G | XP_024304613.1:n.600+2T>G | |
NM_004075.5:c.684+2T>G MANE Select | NP_004066.1:n.684+2T>G |