Linked Data
ClinVar Variation Id:
971792
ClinVar RCV Id:
RCV001247660
dbSNP Id:
rs752635329
ExAC:
17:42084964 A / G
gnomAD v2:
17-42084964-A-G
gnomAD v3:
17-44007596-A-G
gnomAD v4:
17-44007596-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007596A>G , CM000679.2:g.44007596A>G | GRCh38 |
| NC_000017.10:g.42084964A>G , CM000679.1:g.42084964A>G | GRCh37 |
| NC_000017.9:g.39440490A>G | NCBI36 |
| NG_008106.1:g.7933A>G | |
| NG_023338.1:g.1874T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1274A>G (NAGS) MANE Select | ENSP00000293404.2:p.Asn425Ser | |
| ENST00000293404.7:c.1274A>G (NAGS) | ENSP00000293404.2:p.Asn425Ser | |
| ENST00000589767.1:c.1205A>G (NAGS) | ENSP00000465408.1:p.Asn402Ser | |
| ENST00000592915.1:n.1162A>G (NAGS) | ||
| NM_153006.2:c.1274A>G (NAGS) | NP_694551.1:p.Asn425Ser | |
| XM_011524438.1:c.1268+102A>G (NAGS) | XP_011522740.1:n.1268+102A>G | |
| XM_011524439.1:c.776A>G (NAGS) | XP_011522741.1:p.Asn259Ser | |
| XM_011525035.1:c.-463+15976T>C (PYY) | XP_011523337.1:n.-463+15976T>C | |
| XM_011524439.2:c.776A>G (NAGS) | XP_011522741.1:p.Asn259Ser | |
| NM_153006.3:c.1274A>G (NAGS) MANE Select | NP_694551.1:p.Asn425Ser |