Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595083A= , CM000671.2:g.6595083A= | GRCh38 |
| NC_000009.11:g.6595083A= , CM000671.1:g.6595083A= | GRCh37 |
| NC_000009.10:g.6585083A= | NCBI36 |
| NG_016397.1:g.55610T= , LRG_643:g.55610T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1192T= MANE Select | ENSP00000370737.4:p.Tyr398= | |
| ENST00000638654.1:c.439T= | ENSP00000491101.1:p.Tyr147= | |
| ENST00000639364.1:n.892T= | ||
| ENST00000639443.1:n.760T= | ||
| ENST00000639493.1:n.344T= | ||
| ENST00000639954.1:n.900T= | ||
| ENST00000640592.1:n.1075T= | ||
| ENST00000321612.6:c.1192T= | ENSP00000370737.3:p.Tyr398= | |
| ENST00000463305.1:n.276T= | ||
| NM_000170.2:c.1192T= , LRG_643t1:c.1192T= | NP_000161.2:p.Tyr398= | |
| NM_000170.3:c.1192T= MANE Select | NP_000161.2:p.Tyr398= |