Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981590G>C , CM000674.2:g.48981590G>C | GRCh38 |
| NC_000012.11:g.49375373G>C , CM000674.1:g.49375373G>C | GRCh37 |
| NC_000012.10:g.47661640G>C | NCBI36 |
| NG_033141.1:g.8138G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.1063G>C MANE Select | ENSP00000293549.3:p.Val355Leu | |
| ENST00000293549.3:c.1063G>C | ENSP00000293549.3:p.Val355Leu | |
| ENST00000613114.4:c.1030G>C | ENSP00000481240.1:p.Val344Leu | |
| NM_005430.3:c.1063G>C | NP_005421.1:p.Val355Leu | |
| NM_005430.4:c.1063G>C MANE Select | NP_005421.1:p.Val355Leu |