Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12790498A>T , CM000686.2:g.12790498A>T | GRCh38 |
| NC_000024.9:g.14902431A>T , CM000686.1:g.14902431A>T | GRCh37 |
| NC_000024.8:g.13411825A>T | NCBI36 |
| NG_008311.1:g.94272A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.3653A>T | ENSP00000498372.1:p.Glu1218Val | |
| ENST00000338981.7:c.3653A>T MANE Select | ENSP00000342812.3:p.Glu1218Val | |
| ENST00000426564.6:n.3665A>T | ||
| NM_004654.3:c.3653A>T | NP_004645.2:p.Glu1218Val | |
| XM_011531469.1:c.3653A>T | XP_011529771.1:p.Glu1218Val | |
| XM_011531470.1:c.3419A>T | XP_011529772.1:p.Glu1140Val | |
| XM_017030078.2:c.3668A>T | XP_016885567.1:p.Glu1223Val | |
| NM_004654.4:c.3653A>T MANE Select | NP_004645.2:p.Glu1218Val |