HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17642148G>T , CM000673.2:g.17642148G>T | GRCh38 |
NC_000011.9:g.17663695G>T , CM000673.1:g.17663695G>T | GRCh37 |
NC_000011.8:g.17620271G>T | NCBI36 |
NG_033191.1:g.99776G>T | |
NG_033191.2:g.99776G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399391.7:c.8353G>T | ENSP00000382323.2:p.Asp2785Tyr | |
ENST00000399397.6:c.8317G>T MANE Select | ENSP00000382329.2:p.Asp2773Tyr | |
ENST00000399391.6:c.8353G>T | ENSP00000382323.2:p.Asp2785Tyr | |
ENST00000399397.5:c.8317G>T | ENSP00000382329.2:p.Asp2773Tyr | |
NM_001277269.1:c.8353G>T | NP_001264198.1:p.Asp2785Tyr | |
NM_001292063.1:c.8317G>T | NP_001278992.1:p.Asp2773Tyr | |
NM_001277269.2:c.8353G>T | NP_001264198.1:p.Asp2785Tyr | |
NM_001292063.2:c.8317G>T MANE Select | NP_001278992.1:p.Asp2773Tyr |