Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413919G>T , CM000665.2:g.119413919G>T | GRCh38 |
| NC_000003.11:g.119132766G>T , CM000665.1:g.119132766G>T | GRCh37 |
| NC_000003.10:g.120615456G>T | NCBI36 |
| NG_007665.2:g.124547G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1990G>T MANE Select | ENSP00000264245.4:p.Glu664Ter | |
| ENST00000264245.8:c.1990G>T | ENSP00000264245.4:p.Glu664Ter | |
| NM_020754.3:c.1990G>T | NP_065805.2:p.Glu664Ter | |
| XM_005247671.3:c.1897G>T | XP_005247728.1:p.Glu633Ter | |
| XM_006713714.2:c.1930G>T | XP_006713777.1:p.Glu644Ter | |
| XM_006713714.3:c.1930G>T | XP_006713777.1:p.Glu644Ter | |
| XM_017006955.1:c.1498G>T | XP_016862444.1:p.Glu500Ter | |
| NM_020754.4:c.1990G>T MANE Select | NP_065805.2:p.Glu664Ter |