Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862848C= , CM000671.2:g.130862848C= | GRCh38 |
| NC_000009.11:g.133738235C= , CM000671.1:g.133738235C= | GRCh37 |
| NC_000009.10:g.132728056C= | NCBI36 |
| NG_012034.1:g.153968C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.692C= | ENSP00000361423.2:p.Thr231= | |
| ENST00000318560.6:c.635C= MANE Select | ENSP00000323315.5:p.Thr212= | |
| ENST00000372348.7:c.692C= | ENSP00000361423.2:p.Thr231= | |
| ENST00000318560.5:c.635C= | ENSP00000323315.5:p.Thr212= | |
| ENST00000372348.6:c.692C= | ENSP00000361423.2:p.Thr231= | |
| NM_005157.5:c.635C= | NP_005148.2:p.Thr212= | |
| NM_007313.2:c.692C= | NP_009297.2:p.Thr231= | |
| NM_005157.6:c.635C= MANE Select | NP_005148.2:p.Thr212= | |
| NM_007313.3:c.692C= | NP_009297.2:p.Thr231= |