HGVS | Genome Assembly |
---|---|
NC_000010.11:g.97611592T>G , CM000672.2:g.97611592T>G | GRCh38 |
NC_000010.10:g.99371349T>G , CM000672.1:g.99371349T>G | GRCh37 |
NC_000010.9:g.99361339T>G | NCBI36 |
NG_027922.1:g.32248T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370646.9:c.917T>G MANE Select | ENSP00000359680.4:p.Leu306Trp | |
ENST00000370646.8:c.917T>G | ENSP00000359680.4:p.Leu306Trp | |
ENST00000370647.8:c.428T>G | ENSP00000359681.4:p.Leu143Trp | |
ENST00000370649.3:c.345+9602T>G | ENSP00000359683.3:n.345+9602T>G | |
NM_001134670.1:c.428T>G | NP_001128142.1:p.Leu143Trp | |
NM_138413.3:c.917T>G | NP_612422.2:p.Leu306Trp | |
NM_138413.4:c.917T>G MANE Select | NP_612422.2:p.Leu306Trp | |
NM_001134670.2:c.428T>G | NP_001128142.1:p.Leu143Trp |