Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130854817C>G , CM000671.2:g.130854817C>G | GRCh38 |
| NC_000009.11:g.133730204C>G , CM000671.1:g.133730204C>G | GRCh37 |
| NC_000009.10:g.132720025C>G | NCBI36 |
| NG_012034.1:g.145937C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.327C>G | ENSP00000361423.2:p.Val109= | |
| ENST00000318560.6:c.270C>G MANE Select | ENSP00000323315.5:p.Val90= | |
| ENST00000372348.7:c.327C>G | ENSP00000361423.2:p.Val109= | |
| ENST00000318560.5:c.270C>G | ENSP00000323315.5:p.Val90= | |
| ENST00000372348.6:c.327C>G | ENSP00000361423.2:p.Val109= | |
| NM_005157.5:c.270C>G | NP_005148.2:p.Val90= | |
| NM_007313.2:c.327C>G | NP_009297.2:p.Val109= | |
| NM_005157.6:c.270C>G MANE Select | NP_005148.2:p.Val90= | |
| NM_007313.3:c.327C>G | NP_009297.2:p.Val109= |