Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592933A= , CM000671.2:g.6592933A= | GRCh38 |
| NC_000009.11:g.6592933A= , CM000671.1:g.6592933A= | GRCh37 |
| NC_000009.10:g.6582933A= | NCBI36 |
| NG_016397.1:g.57760T= , LRG_643:g.57760T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1319T= MANE Select | NP_000161.2:p.Ile440= |
| ENST00000321612.8:c.1319T= MANE Select | ENSP00000370737.4:p.Ile440= |
| NM_000170.2:c.1319T= , LRG_643t1:c.1319T= | NP_000161.2:p.Ile440= |
| ENST00000321612.6:c.1319T= | ENSP00000370737.3:p.Ile440= |
| ENST00000463305.1:n.403T= | |
| ENST00000639364.1:n.1019T= | |
| ENST00000639443.1:n.887T= | |
| ENST00000639493.1:n.471T= | |
| ENST00000639954.1:n.1027T= | |
| ENST00000640592.1:n.1202T= | |
| ENST00000640703.1:n.162T= |