Linked Data
dbSNP Id:
rs773006573
ExAC:
17:42083584 C / T
gnomAD v2:
17-42083584-C-T
gnomAD v3:
17-44006216-C-T
gnomAD v4:
17-44006216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006216C>T , CM000679.2:g.44006216C>T | GRCh38 |
| NC_000017.10:g.42083584C>T , CM000679.1:g.42083584C>T | GRCh37 |
| NC_000017.9:g.39439110C>T | NCBI36 |
| NG_008106.1:g.6553C>T | |
| NG_023338.1:g.3254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.894C>T (NAGS) MANE Select | ENSP00000293404.2:p.Gly298= | |
| ENST00000293404.7:c.894C>T (NAGS) | ENSP00000293404.2:p.Gly298= | |
| ENST00000589767.1:c.801C>T (NAGS) | ENSP00000465408.1:p.Gly267= | |
| ENST00000592915.1:n.169C>T (NAGS) | ||
| NM_153006.2:c.894C>T (NAGS) | NP_694551.1:p.Gly298= | |
| XM_011524438.1:c.894C>T (NAGS) | XP_011522740.1:p.Gly298= | |
| XM_011524439.1:c.396C>T (NAGS) | XP_011522741.1:p.Gly132= | |
| XM_011525035.1:c.-463+17356G>A (PYY) | XP_011523337.1:n.-463+17356G>A | |
| XM_011524439.2:c.396C>T (NAGS) | XP_011522741.1:p.Gly132= | |
| NM_153006.3:c.894C>T (NAGS) MANE Select | NP_694551.1:p.Gly298= |