Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845635G>T , CM000672.2:g.99845635G>T | GRCh38 |
| NC_000010.10:g.101605392G>T , CM000672.1:g.101605392G>T | GRCh37 |
| NC_000010.9:g.101595382G>T | NCBI36 |
| NG_011798.1:g.67930G>T | |
| NG_011798.2:g.68038G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3999G>T MANE Select | ENSP00000497274.1:p.Val1333= | |
| ENST00000649459.1:n.347G>T | ||
| ENST00000370449.8:c.3999G>T | ENSP00000359478.4:p.Val1333= | |
| NM_000392.4:c.3999G>T | NP_000383.1:p.Val1333= | |
| XM_006717630.2:c.3303G>T | XP_006717693.1:p.Val1101= | |
| XR_945604.1:n.4177-48G>T | ||
| XR_945605.1:n.4063G>T | ||
| NM_000392.5:c.3999G>T MANE Select | NP_000383.2:p.Val1333= | |
| XM_006717630.3:c.3303G>T | XP_006717693.1:p.Val1101= | |
| XR_945604.3:n.4231-48G>T | ||
| XR_945605.3:n.4115G>T |