HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6318535C>A , CM000668.2:g.6318535C>A | GRCh38 |
NC_000006.11:g.6318768C>A , CM000668.1:g.6318768C>A | GRCh37 |
NC_000006.10:g.6263767C>A | NCBI36 |
NG_008107.1:g.7157G>T , LRG_549:g.7157G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.130G>T MANE Select | ENSP00000264870.3:p.Glu44Ter | |
ENST00000264870.7:c.130G>T | ENSP00000264870.3:p.Glu44Ter | |
ENST00000414279.5:c.130G>T | ENSP00000413334.1:p.Glu44Ter | |
ENST00000431222.6:c.292G>T | ENSP00000416295.2:p.Glu98Ter | |
ENST00000451619.1:c.204G>T | ||
NM_000129.3:c.130G>T , LRG_549t1:c.130G>T | NP_000120.2:p.Glu44Ter | |
XM_006715010.2:c.130G>T | XP_006715073.1:p.Glu44Ter | |
XM_011514342.1:c.292G>T | XP_011512644.1:p.Glu98Ter | |
NM_000129.4:c.130G>T MANE Select | NP_000120.2:p.Glu44Ter |