Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128209A>G , CM000672.2:g.43128209A>G | GRCh38 |
| NC_000010.10:g.43623657A>G , CM000672.1:g.43623657A>G | GRCh37 |
| NC_000010.9:g.42943663A>G | NCBI36 |
| NG_007489.1:g.56141A>G , LRG_518:g.56141A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.3285A>G MANE Select | NP_066124.1:p.Val1095= |
| ENST00000355710.8:c.3285A>G MANE Select | ENSP00000347942.3:p.Val1095= |
| NM_020975.4:c.3285A>G , LRG_518t1:c.3285A>G | NP_066124.1:p.Val1095= |
| NM_020975.5:c.3285A>G | NP_066124.1:p.Val1095= |
| ENST00000355710.7:c.3285A>G | ENSP00000347942.3:p.Val1095= |
| ENST00000615310.4:c.*634A>G | ENSP00000480088.1:n.*634A>G |
| ENST00000615310.5:c.*1455A>G | ENSP00000480088.2:n.*1455A>G |
| ENST00000683007.1:n.4248A>G | |
| XM_011540027.1:c.3285A>G | XP_011538329.1:p.Val1095= |