HGVS | Genome Assembly |
---|---|
NC_000003.12:g.140678744T>G , CM000665.2:g.140678744T>G | GRCh38 |
NC_000003.11:g.140397586T>G , CM000665.1:g.140397586T>G | GRCh37 |
NC_000003.10:g.141880276T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286349.4:c.341+174T>G MANE Select | ENSP00000286349.3:n.341+174T>G | |
ENST00000286349.3:c.341+174T>G | ENSP00000286349.3:n.341+174T>G | |
NM_152616.4:c.341+174T>G | NP_689829.3:n.341+174T>G | |
XM_011512740.1:c.341+174T>G | XP_011511042.1:n.341+174T>G | |
XM_011512741.1:c.-221+174T>G | XP_011511043.1:n.-221+174T>G | |
XM_011512740.3:c.341+174T>G | XP_011511042.1:n.341+174T>G | |
XR_001740121.2:n.518+174T>G | ||
XR_001740122.2:n.518+174T>G | ||
NM_152616.5:c.341+174T>G MANE Select | NP_689829.3:n.341+174T>G |