Linked Data
dbSNP Id:
rs1217260256
gnomAD v2:
17-42085241-A-G
gnomAD v3:
17-44007873-A-G
gnomAD v4:
17-44007873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007873A>G , CM000679.2:g.44007873A>G | GRCh38 |
| NC_000017.10:g.42085241A>G , CM000679.1:g.42085241A>G | GRCh37 |
| NC_000017.9:g.39440767A>G | NCBI36 |
| NG_008106.1:g.8210A>G | |
| NG_023338.1:g.1597T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1451+100A>G (NAGS) MANE Select | ENSP00000293404.2:n.1451+100A>G | |
| ENST00000293404.7:c.1451+100A>G (NAGS) | ENSP00000293404.2:n.1451+100A>G | |
| ENST00000589767.1:c.1382+100A>G (NAGS) | ENSP00000465408.1:n.1382+100A>G | |
| ENST00000592915.1:n.1339+100A>G (NAGS) | ||
| NM_153006.2:c.1451+100A>G (NAGS) | NP_694551.1:n.1451+100A>G | |
| XM_011524438.1:c.1268+379A>G (NAGS) | XP_011522740.1:n.1268+379A>G | |
| XM_011524439.1:c.953+100A>G (NAGS) | XP_011522741.1:n.953+100A>G | |
| XM_011525035.1:c.-463+15699T>C (PYY) | XP_011523337.1:n.-463+15699T>C | |
| XM_011524439.2:c.953+100A>G (NAGS) | XP_011522741.1:n.953+100A>G | |
| NM_153006.3:c.1451+100A>G (NAGS) MANE Select | NP_694551.1:n.1451+100A>G |