Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6604709C= , CM000671.2:g.6604709C= | GRCh38 |
| NC_000009.11:g.6604709C= , CM000671.1:g.6604709C= | GRCh37 |
| NC_000009.10:g.6594709C= | NCBI36 |
| NG_016397.1:g.45984G= , LRG_643:g.45984G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.937G= MANE Select | NP_000161.2:p.Ala313= |
| ENST00000321612.8:c.937G= MANE Select | ENSP00000370737.4:p.Ala313= |
| NM_000170.2:c.937G= , LRG_643t1:c.937G= | NP_000161.2:p.Ala313= |
| ENST00000321612.6:c.937G= | ENSP00000370737.3:p.Ala313= |
| ENST00000463305.1:n.142+422G= | |
| ENST00000638654.1:c.184G= | ENSP00000491101.1:p.Ala62= |
| ENST00000639364.1:n.637G= | |
| ENST00000639443.1:n.505G= | |
| ENST00000639493.1:n.89G= | |
| ENST00000639954.1:n.645G= | |
| ENST00000640592.1:n.820G= |