Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6587159A>T , CM000671.2:g.6587159A>T | GRCh38 |
| NC_000009.11:g.6587159A>T , CM000671.1:g.6587159A>T | GRCh37 |
| NC_000009.10:g.6577159A>T | NCBI36 |
| NG_016397.1:g.63534T>A , LRG_643:g.63534T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1832T>A MANE Select | NP_000161.2:p.Val611Asp |
| ENST00000321612.8:c.1832T>A MANE Select | ENSP00000370737.4:p.Val611Asp |
| NM_000170.2:c.1832T>A , LRG_643t1:c.1832T>A | NP_000161.2:p.Val611Asp |
| ENST00000321612.6:c.1832T>A | ENSP00000370737.3:p.Val611Asp |
| ENST00000639364.1:n.1532T>A | |
| ENST00000639443.1:n.1400T>A | |
| ENST00000639954.1:n.1540T>A | |
| ENST00000640592.1:n.1715T>A |