Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981550C>T , CM000674.2:g.48981550C>T | GRCh38 |
| NC_000012.11:g.49375333C>T , CM000674.1:g.49375333C>T | GRCh37 |
| NC_000012.10:g.47661600C>T | NCBI36 |
| NG_033141.1:g.8098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.1023C>T MANE Select | ENSP00000293549.3:p.Val341= | |
| ENST00000293549.3:c.1023C>T | ENSP00000293549.3:p.Val341= | |
| ENST00000613114.4:c.990C>T | ENSP00000481240.1:p.Val330= | |
| NM_005430.3:c.1023C>T | NP_005421.1:p.Val341= | |
| NM_005430.4:c.1023C>T MANE Select | NP_005421.1:p.Val341= |