Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670176A>G , CM000666.2:g.68670176A>G | GRCh38 |
| NC_000004.11:g.69535894A>G , CM000666.1:g.69535894A>G | GRCh37 |
| NC_000004.10:g.69218489A>G | NCBI36 |
| NG_052676.1:g.5601T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.443T>C MANE Select | ENSP00000341045.5:p.Val148Ala | |
| ENST00000338206.5:c.443T>C | ENSP00000341045.5:p.Val148Ala | |
| ENST00000616841.4:c.443T>C | ENSP00000482004.1:p.Val148Ala | |
| NM_001076.3:c.443T>C | NP_001067.2:p.Val148Ala | |
| NM_001076.4:c.443T>C MANE Select | NP_001067.2:p.Val148Ala |