HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64746975G>C , CM000673.2:g.64746975G>C | GRCh38 |
NC_000011.9:g.64514447G>C , CM000673.1:g.64514447G>C | GRCh37 |
NC_000011.8:g.64271023G>C | NCBI36 |
NG_007574.1:g.3482C>G , LRG_100:g.3482C>G | |
NG_013018.1:g.18741C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.2325C>G MANE Select | ENSP00000164139.3:p.Phe775Leu | |
ENST00000164139.3:c.2325C>G | ENSP00000164139.3:p.Phe775Leu | |
ENST00000377432.7:c.2061C>G | ENSP00000366650.3:p.Phe687Leu | |
ENST00000483742.1:n.1678C>G | ||
NM_001164716.1:c.2061C>G | NP_001158188.1:p.Phe687Leu | |
NM_005609.2:c.2325C>G | NP_005600.1:p.Phe775Leu | |
NM_005609.3:c.2325C>G | NP_005600.1:p.Phe775Leu | |
NM_005609.4:c.2325C>G MANE Select | NP_005600.1:p.Phe775Leu |