Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836266T= , CM000672.2:g.99836266T= | GRCh38 |
| NC_000010.10:g.101596023T= , CM000672.1:g.101596023T= | GRCh37 |
| NC_000010.9:g.101586013T= | NCBI36 |
| NG_011798.1:g.58561T= | |
| NG_011798.2:g.58669T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3590T= MANE Select | ENSP00000497274.1:p.Val1197= | |
| ENST00000370449.8:c.3590T= | ENSP00000359478.4:p.Val1197= | |
| NM_000392.4:c.3590T= | NP_000383.1:p.Val1197= | |
| XM_006717630.2:c.2894T= | XP_006717693.1:p.Val965= | |
| XR_945604.1:n.3779T= | ||
| XR_945605.1:n.3781T= | ||
| NM_000392.5:c.3590T= MANE Select | NP_000383.2:p.Val1197= | |
| XM_006717630.3:c.2894T= | XP_006717693.1:p.Val965= | |
| XR_945604.3:n.3833T= | ||
| XR_945605.3:n.3833T= |