Linked Data
dbSNP Id:
rs758080404
ExAC:
17:42083601 A / G
gnomAD v2:
17-42083601-A-G
gnomAD v4:
17-44006233-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006233A>G , CM000679.2:g.44006233A>G | GRCh38 |
| NC_000017.10:g.42083601A>G , CM000679.1:g.42083601A>G | GRCh37 |
| NC_000017.9:g.39439127A>G | NCBI36 |
| NG_008106.1:g.6570A>G | |
| NG_023338.1:g.3237T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.911A>G (NAGS) MANE Select | ENSP00000293404.2:p.His304Arg | |
| ENST00000293404.7:c.911A>G (NAGS) | ENSP00000293404.2:p.His304Arg | |
| ENST00000589767.1:c.818A>G (NAGS) | ENSP00000465408.1:p.His273Arg | |
| ENST00000592915.1:n.186A>G (NAGS) | ||
| NM_153006.2:c.911A>G (NAGS) | NP_694551.1:p.His304Arg | |
| XM_011524438.1:c.911A>G (NAGS) | XP_011522740.1:p.His304Arg | |
| XM_011524439.1:c.413A>G (NAGS) | XP_011522741.1:p.His138Arg | |
| XM_011525035.1:c.-463+17339T>C (PYY) | XP_011523337.1:n.-463+17339T>C | |
| XM_011524439.2:c.413A>G (NAGS) | XP_011522741.1:p.His138Arg | |
| NM_153006.3:c.911A>G (NAGS) MANE Select | NP_694551.1:p.His304Arg |