Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12091604T>C , CM000672.2:g.12091604T>C | GRCh38 |
| NC_000010.10:g.12133603T>C , CM000672.1:g.12133603T>C | GRCh37 |
| NC_000010.9:g.12173609T>C | NCBI36 |
| NG_033248.1:g.27688T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.1079T>C MANE Select | NP_061176.4:p.Val360Ala |
| ENST00000263035.9:c.1079T>C MANE Select | ENSP00000263035.4:p.Val360Ala |
| NM_018706.6:c.1079T>C | NP_061176.3:p.Val360Ala |
| ENST00000263035.8:c.1079T>C | ENSP00000263035.4:p.Val360Ala |
| ENST00000415935.1:c.173T>C | ENSP00000400625.1:p.Val58Ala |
| ENST00000437298.1:c.884T>C | ENSP00000388163.1:p.Val295Ala |
| ENST00000465617.1:n.300-2469T>C |