Linked Data
ClinVar Variation Id:
1667565
ClinVar RCV Id:
RCV002189076
dbSNP Id:
rs2143987399
MyVariant Identifiers:
chr17:g.42084007C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006639C>A , CM000679.2:g.44006639C>A | GRCh38 |
| NC_000017.10:g.42084007C>A , CM000679.1:g.42084007C>A | GRCh37 |
| NC_000017.9:g.39439533C>A | NCBI36 |
| NG_008106.1:g.6976C>A | |
| NG_023338.1:g.2831G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1026C>A (NAGS) MANE Select | ENSP00000293404.2:p.Arg342= | |
| ENST00000293404.7:c.1026C>A (NAGS) | ENSP00000293404.2:p.Arg342= | |
| ENST00000589767.1:c.933C>A (NAGS) | ENSP00000465408.1:p.Arg311= | |
| ENST00000592915.1:n.301C>A (NAGS) | ||
| NM_153006.2:c.1026C>A (NAGS) | NP_694551.1:p.Arg342= | |
| XM_011524438.1:c.1026C>A (NAGS) | XP_011522740.1:p.Arg342= | |
| XM_011524439.1:c.528C>A (NAGS) | XP_011522741.1:p.Arg176= | |
| XM_011525035.1:c.-463+16933G>T (PYY) | XP_011523337.1:n.-463+16933G>T | |
| XM_011524439.2:c.528C>A (NAGS) | XP_011522741.1:p.Arg176= | |
| NM_153006.3:c.1026C>A (NAGS) MANE Select | NP_694551.1:p.Arg342= |