Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68669900A>G , CM000666.2:g.68669900A>G | GRCh38 |
| NC_000004.11:g.69535618A>G , CM000666.1:g.69535618A>G | GRCh37 |
| NC_000004.10:g.69218213A>G | NCBI36 |
| NG_052676.1:g.5877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.719T>C MANE Select | ENSP00000341045.5:p.Val240Ala | |
| ENST00000338206.5:c.719T>C | ENSP00000341045.5:p.Val240Ala | |
| ENST00000616841.4:c.719T>C | ENSP00000482004.1:p.Val240Ala | |
| NM_001076.3:c.719T>C | NP_001067.2:p.Val240Ala | |
| NM_001076.4:c.719T>C MANE Select | NP_001067.2:p.Val240Ala |