Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107698085T= , CM000669.2:g.107698085T= | GRCh38 |
| NC_000007.13:g.107338530T= , CM000669.1:g.107338530T= | GRCh37 |
| NC_000007.12:g.107125766T= | NCBI36 |
| NG_008489.1:g.42451T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.1588T= MANE Select | NP_000432.1:p.Tyr530= |
| ENST00000644269.2:c.1588T= MANE Select | ENSP00000494017.1:p.Tyr530= |
| NM_000441.1:c.1588T= | NP_000432.1:p.Tyr530= |
| ENST00000265715.7:c.1588T= | ENSP00000265715.3:p.Tyr530= |
| ENST00000477350.5:n.435T= | |
| ENST00000480841.5:n.437T= | |
| ENST00000644846.1:c.299T= | |
| XM_005250425.1:c.1588T= | XP_005250482.1:p.Tyr530= |
| XM_005250425.2:c.1588T= | XP_005250482.1:p.Tyr530= |
| XM_017012318.1:c.1510T= | XP_016867807.1:p.Tyr504= |