Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529681G>T , CM000681.2:g.7529681G>T | GRCh38 |
| NC_000019.9:g.7594567G>T , CM000681.1:g.7594567G>T | GRCh37 |
| NC_000019.8:g.7500567G>T | NCBI36 |
| NG_013374.1:g.530G>T | |
| NG_015806.1:g.12072G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1328G>T MANE Select | ENSP00000264079.5:p.Gly443Val | |
| ENST00000264079.10:c.1328G>T | ENSP00000264079.5:p.Gly443Val | |
| ENST00000394321.9:n.1643G>T | ||
| ENST00000594692.1:n.324G>T | ||
| ENST00000595860.5:n.511G>T | ||
| ENST00000599334.1:c.205G>T | ||
| NM_020533.2:c.1328G>T | NP_065394.1:p.Gly443Val | |
| NM_020533.3:c.1328G>T MANE Select | NP_065394.1:p.Gly443Val |