HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421856C>A , CM000671.2:g.101421856C>A | GRCh38 |
NC_000009.11:g.104184138C>A , CM000671.1:g.104184138C>A | GRCh37 |
NC_000009.10:g.103223959C>A | NCBI36 |
NG_012387.1:g.18925G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.1048G>T MANE Select | ENSP00000497767.1:p.Gly350Trp | |
ENST00000648064.1:c.1048G>T | ENSP00000497990.1:p.Gly350Trp | |
ENST00000648758.1:c.1048G>T | ENSP00000497731.1:p.Gly350Trp | |
ENST00000374855.8:c.1048G>T | ENSP00000363988.4:p.Gly350Trp | |
ENST00000616752.1:c.*60G>T | ENSP00000481363.1:n.*60G>T | |
NM_000035.3:c.1048G>T | NP_000026.2:p.Gly350Trp | |
NM_000035.4:c.1048G>T MANE Select | NP_000026.2:p.Gly350Trp |