HGVS | Genome Assembly |
---|---|
NC_000017.11:g.35575912A>G , CM000679.2:g.35575912A>G | GRCh38 |
NC_000017.10:g.33902931A>G , CM000679.1:g.33902931A>G | GRCh37 |
NC_000017.9:g.30927044A>G | NCBI36 |
NG_008447.1:g.7726T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225873.9:c.950T>C MANE Select | ENSP00000225873.3:p.Leu317Pro | |
ENST00000586663.2:c.950T>C | ENSP00000466894.2:p.Leu317Pro | |
ENST00000225873.8:c.950T>C | ENSP00000225873.3:p.Leu317Pro | |
ENST00000586663.1:c.950T>C | ENSP00000466894.1:p.Leu317Pro | |
ENST00000613219.4:c.950T>C | ENSP00000482609.1:p.Leu317Pro | |
NM_000286.2:c.950T>C | NP_000277.1:p.Leu317Pro | |
NM_000286.3:c.950T>C MANE Select | NP_000277.1:p.Leu317Pro |