HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64750423G>C , CM000673.2:g.64750423G>C | GRCh38 |
NC_000011.9:g.64517895G>C , CM000673.1:g.64517895G>C | GRCh37 |
NC_000011.8:g.64274471G>C | NCBI36 |
NG_007574.1:g.34C>G , LRG_100:g.34C>G | |
NG_013018.1:g.15293C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.2130C>G MANE Select | ENSP00000164139.3:p.Phe710Leu | |
ENST00000164139.3:c.2130C>G | ENSP00000164139.3:p.Phe710Leu | |
ENST00000377432.7:c.1866C>G | ENSP00000366650.3:p.Phe622Leu | |
NM_001164716.1:c.1866C>G | NP_001158188.1:p.Phe622Leu | |
NM_005609.2:c.2130C>G | NP_005600.1:p.Phe710Leu | |
NM_005609.3:c.2130C>G | NP_005600.1:p.Phe710Leu | |
NM_005609.4:c.2130C>G MANE Select | NP_005600.1:p.Phe710Leu |