Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6588629T>A , CM000671.2:g.6588629T>A | GRCh38 |
| NC_000009.11:g.6588629T>A , CM000671.1:g.6588629T>A | GRCh37 |
| NC_000009.10:g.6578629T>A | NCBI36 |
| NG_016397.1:g.62064A>T , LRG_643:g.62064A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1654A>T MANE Select | NP_000161.2:p.Met552Leu |
| ENST00000321612.8:c.1654A>T MANE Select | ENSP00000370737.4:p.Met552Leu |
| NM_000170.2:c.1654A>T , LRG_643t1:c.1654A>T | NP_000161.2:p.Met552Leu |
| ENST00000321612.6:c.1654A>T | ENSP00000370737.3:p.Met552Leu |
| ENST00000639364.1:n.1354A>T | |
| ENST00000639443.1:n.1222A>T | |
| ENST00000639954.1:n.1362A>T | |
| ENST00000640592.1:n.1537A>T |