HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145138A>G , CM000670.2:g.96145138A>G | GRCh38 |
NC_000008.10:g.97157366A>G , CM000670.1:g.97157366A>G | GRCh37 |
NC_000008.9:g.97226542A>G | NCBI36 |
NG_008981.1:g.20655T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.793T>C MANE Select | ENSP00000287020.4:p.Phe265Leu | |
ENST00000287020.6:c.793T>C | ENSP00000287020.4:p.Phe265Leu | |
ENST00000620978.1:c.731T>C | ENSP00000480170.1:p.Leu244Pro | |
ENST00000621429.1:c.793T>C | ENSP00000483711.1:p.Phe265Leu | |
NM_001001557.2:c.793T>C | NP_001001557.1:p.Phe265Leu | |
XM_011517030.1:c.394T>C | XP_011515332.1:p.Phe132Leu | |
NM_001001557.3:c.793T>C | NP_001001557.1:p.Phe265Leu | |
NM_001001557.4:c.793T>C MANE Select | NP_001001557.1:p.Phe265Leu |