HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400171T>G , CM000670.2:g.18400171T>G | GRCh38 |
NC_000008.10:g.18257681T>G , CM000670.1:g.18257681T>G | GRCh37 |
NC_000008.9:g.18301961T>G | NCBI36 |
NG_012246.1:g.13927T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286479.4:c.168T>G MANE Select | ENSP00000286479.3:p.Phe56Leu | |
ENST00000286479.3:c.168T>G | ENSP00000286479.3:p.Phe56Leu | |
ENST00000520116.1:c.-57-166T>G | ENSP00000428416.1:n.-57-166T>G | |
NM_000015.2:c.168T>G | NP_000006.2:p.Phe56Leu | |
XM_011544358.1:c.168T>G | XP_011542660.1:p.Phe56Leu | |
XM_017012938.1:c.168T>G | XP_016868427.1:p.Phe56Leu | |
NM_000015.3:c.168T>G MANE Select | NP_000006.2:p.Phe56Leu |