Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872164A>G , CM000671.2:g.130872164A>G | GRCh38 |
| NC_000009.11:g.133747551A>G , CM000671.1:g.133747551A>G | GRCh37 |
| NC_000009.10:g.132737372A>G | NCBI36 |
| NG_012034.1:g.163284A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.915A>G | ENSP00000361423.2:p.Glu305= | |
| ENST00000318560.6:c.858A>G MANE Select | ENSP00000323315.5:p.Glu286= | |
| ENST00000372348.7:c.915A>G | ENSP00000361423.2:p.Glu305= | |
| ENST00000318560.5:c.858A>G | ENSP00000323315.5:p.Glu286= | |
| ENST00000372348.6:c.915A>G | ENSP00000361423.2:p.Glu305= | |
| NM_005157.5:c.858A>G | NP_005148.2:p.Glu286= | |
| NM_007313.2:c.915A>G | NP_009297.2:p.Glu305= | |
| NM_005157.6:c.858A>G MANE Select | NP_005148.2:p.Glu286= | |
| NM_007313.3:c.915A>G | NP_009297.2:p.Glu305= |