HGVS | Genome Assembly |
---|---|
NC_000003.12:g.69119438A>C , CM000665.2:g.69119438A>C | GRCh38 |
NC_000003.11:g.69168589A>C , CM000665.1:g.69168589A>C | GRCh37 |
NC_000003.10:g.69251279A>C | NCBI36 |
NG_041828.1:g.8158T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000420581.7:c.917T>G MANE Select | ENSP00000414670.3:p.Leu306Trp | |
ENST00000420581.6:c.917T>G | ENSP00000414670.2:p.Leu306Trp | |
ENST00000475434.1:c.917T>G | ENSP00000418645.1:p.Leu306Trp | |
ENST00000489031.5:c.917T>G | ENSP00000417210.1:p.Leu306Trp | |
NM_001304418.1:c.917T>G | NP_001291347.1:p.Leu306Trp | |
NM_198271.4:c.917T>G | NP_938012.2:p.Leu306Trp | |
NM_001304418.3:c.917T>G | NP_001291347.1:p.Leu306Trp | |
NM_198271.5:c.917T>G MANE Select | NP_938012.2:p.Leu306Trp |