Linked Data
ClinVar Variation Id:
2430
ClinVar RCV Id:
RCV000002532
dbSNP Id:
rs730880303
PubMed:
PMID:12754705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007629dup , CM000679.2:g.44007629dup | GRCh38 |
| NC_000017.10:g.42084997dup , CM000679.1:g.42084997dup | GRCh37 |
| NC_000017.9:g.39440523dup | NCBI36 |
| NG_008106.1:g.7966dup | |
| NG_023338.1:g.1841dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1307dup (NAGS) MANE Select | ENSP00000293404.2:p.Thr439HisfsTer? | |
| ENST00000293404.7:c.1307dup (NAGS) | ENSP00000293404.2:p.Thr439HisfsTer? | |
| ENST00000589767.1:c.1238dup (NAGS) | ENSP00000465408.1:p.Thr416HisfsTer? | |
| ENST00000592915.1:n.1195dup (NAGS) | ||
| NM_153006.2:c.1307dup (NAGS) | NP_694551.1:p.Thr439HisfsTer? | |
| XM_011524438.1:c.1268+135dup (NAGS) | XP_011522740.1:n.1268+135dup | |
| XM_011524439.1:c.809dup (NAGS) | XP_011522741.1:p.Thr273HisfsTer? | |
| XM_011525035.1:c.-463+15943dup (PYY) | XP_011523337.1:n.-463+15943dup | |
| XM_011524439.2:c.809dup (NAGS) | XP_011522741.1:p.Thr273HisfsTer? | |
| NM_153006.3:c.1307dup (NAGS) MANE Select | NP_694551.1:p.Thr439HisfsTer? |