Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107694404T= , CM000669.2:g.107694404T= | GRCh38 |
| NC_000007.13:g.107334849T= , CM000669.1:g.107334849T= | GRCh37 |
| NC_000007.12:g.107122085T= | NCBI36 |
| NG_008489.1:g.38770T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.1265T= MANE Select | NP_000432.1:p.Val422= |
| ENST00000644269.2:c.1265T= MANE Select | ENSP00000494017.1:p.Val422= |
| NM_000441.1:c.1265T= | NP_000432.1:p.Val422= |
| ENST00000265715.7:c.1265T= | ENSP00000265715.3:p.Val422= |
| ENST00000460748.1:n.368T= | |
| ENST00000477350.5:n.189-217T= | |
| ENST00000480841.5:n.114T= | |
| ENST00000497446.5:n.280T= | |
| XM_005250425.1:c.1265T= | XP_005250482.1:p.Val422= |
| XM_005250425.2:c.1265T= | XP_005250482.1:p.Val422= |
| XM_017012318.1:c.1264-217T= | XP_016867807.1:n.1264-217T= |