Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845641G= , CM000672.2:g.99845641G= | GRCh38 |
| NC_000010.10:g.101605398G= , CM000672.1:g.101605398G= | GRCh37 |
| NC_000010.9:g.101595388G= | NCBI36 |
| NG_011798.1:g.67936G= | |
| NG_011798.2:g.68044G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4005G= MANE Select | ENSP00000497274.1:p.Arg1335= | |
| ENST00000649459.1:n.353G= | ||
| ENST00000370449.8:c.4005G= | ENSP00000359478.4:p.Arg1335= | |
| NM_000392.4:c.4005G= | NP_000383.1:p.Arg1335= | |
| XM_006717630.2:c.3309G= | XP_006717693.1:p.Arg1103= | |
| XR_945604.1:n.4177-42G= | ||
| XR_945605.1:n.4069G= | ||
| NM_000392.5:c.4005G= MANE Select | NP_000383.2:p.Arg1335= | |
| XM_006717630.3:c.3309G= | XP_006717693.1:p.Arg1103= | |
| XR_945604.3:n.4231-42G= | ||
| XR_945605.3:n.4121G= |