Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701105G>T , CM000669.2:g.107701105G>T | GRCh38 |
| NC_000007.13:g.107341550G>T , CM000669.1:g.107341550G>T | GRCh37 |
| NC_000007.12:g.107128786G>T | NCBI36 |
| NG_008489.1:g.45471G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1712G>T MANE Select | ENSP00000494017.1:p.Gly571Val | |
| ENST00000644846.1:c.423G>T | ||
| ENST00000265715.7:c.1712G>T | ENSP00000265715.3:p.Gly571Val | |
| ENST00000480841.5:n.561G>T | ||
| ENST00000492030.2:n.91-722G>T | ||
| NM_000441.1:c.1712G>T | NP_000432.1:p.Gly571Val | |
| XM_005250425.1:c.1712G>T | XP_005250482.1:p.Gly571Val | |
| XM_005250425.2:c.1712G>T | XP_005250482.1:p.Gly571Val | |
| XM_017012318.1:c.1634G>T | XP_016867807.1:p.Gly545Val | |
| NM_000441.2:c.1712G>T MANE Select | NP_000432.1:p.Gly571Val |