Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10637926T>C , CM000682.2:g.10637926T>C | GRCh38 |
| NC_000020.10:g.10618574T>C , CM000682.1:g.10618574T>C | GRCh37 |
| NC_000020.9:g.10566574T>C | NCBI36 |
| NG_007496.1:g.41121A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.*1572A>G (JAG1) MANE Select | NP_000205.1:n.*1572A>G |
| ENST00000254958.10:c.*1572A>G (JAG1) MANE Select | ENSP00000254958.4:n.*1572A>G |
| NM_000214.2:c.*1572A>G (JAG1) | NP_000205.1:n.*1572A>G |
| ENST00000254958.9:c.*1572A>G (JAG1) | ENSP00000254958.4:n.*1572A>G |
| ENST00000423891.6:n.3591A>G (JAG1) | |
| XM_011529163.1:c.*1300T>C (SLX4IP) | XP_011527465.1:n.*1300T>C |