Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695949C= , CM000669.2:g.107695949C= | GRCh38 |
| NC_000007.13:g.107336394C= , CM000669.1:g.107336394C= | GRCh37 |
| NC_000007.12:g.107123630C= | NCBI36 |
| NG_008489.1:g.40315C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1454C= MANE Select | ENSP00000494017.1:p.Thr485= | |
| ENST00000644846.1:c.165C= | ||
| ENST00000265715.7:c.1454C= | ENSP00000265715.3:p.Thr485= | |
| ENST00000460748.1:n.557C= | ||
| ENST00000477350.5:n.301C= | ||
| ENST00000480841.5:n.303C= | ||
| ENST00000497446.5:n.469C= | ||
| NM_000441.1:c.1454C= | NP_000432.1:p.Thr485= | |
| XM_005250425.1:c.1454C= | XP_005250482.1:p.Thr485= | |
| XM_005250425.2:c.1454C= | XP_005250482.1:p.Thr485= | |
| XM_017012318.1:c.1376C= | XP_016867807.1:p.Thr459= | |
| NM_000441.2:c.1454C= MANE Select | NP_000432.1:p.Thr485= |