Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695934T= , CM000669.2:g.107695934T= | GRCh38 |
| NC_000007.13:g.107336379T= , CM000669.1:g.107336379T= | GRCh37 |
| NC_000007.12:g.107123615T= | NCBI36 |
| NG_008489.1:g.40300T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1439T= MANE Select | ENSP00000494017.1:p.Val480= | |
| ENST00000644846.1:c.150T= | ||
| ENST00000265715.7:c.1439T= | ENSP00000265715.3:p.Val480= | |
| ENST00000460748.1:n.542T= | ||
| ENST00000477350.5:n.286T= | ||
| ENST00000480841.5:n.288T= | ||
| ENST00000497446.5:n.454T= | ||
| NM_000441.1:c.1439T= | NP_000432.1:p.Val480= | |
| XM_005250425.1:c.1439T= | XP_005250482.1:p.Val480= | |
| XM_005250425.2:c.1439T= | XP_005250482.1:p.Val480= | |
| XM_017012318.1:c.1361T= | XP_016867807.1:p.Val454= | |
| NM_000441.2:c.1439T= MANE Select | NP_000432.1:p.Val480= |