HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552265T>A , CM000681.2:g.43552265T>A | GRCh38 |
NC_000019.9:g.44056417T>A , CM000681.1:g.44056417T>A | GRCh37 |
NC_000019.8:g.48748257T>A | NCBI36 |
NG_033799.1:g.28314A>T , LRG_784:g.28314A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.834A>T MANE Select | ENSP00000262887.5:p.Pro278= | |
ENST00000262887.9:c.834A>T | ENSP00000262887.4:p.Pro278= | |
ENST00000543982.5:c.741A>T | ENSP00000443671.1:p.Pro247= | |
ENST00000595789.5:n.955A>T | ||
ENST00000597811.5:c.444A>T | ||
ENST00000598165.5:c.855A>T | ENSP00000470045.1:p.Pro285= | |
ENST00000598422.1:n.514A>T | ||
NM_006297.2:c.834A>T , LRG_784t1:c.834A>T | NP_006288.2:p.Pro278= | |
NM_006297.3:c.834A>T MANE Select | NP_006288.2:p.Pro278= |