Linked Data
ClinVar Variation Id:
1656249
ClinVar RCV Id:
RCV002168911
dbSNP Id:
rs1196927943
gnomAD v4:
17-44006186-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006186C>G , CM000679.2:g.44006186C>G | GRCh38 |
| NC_000017.10:g.42083554C>G , CM000679.1:g.42083554C>G | GRCh37 |
| NC_000017.9:g.39439080C>G | NCBI36 |
| NG_008106.1:g.6523C>G | |
| NG_023338.1:g.3284G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.864C>G (NAGS) MANE Select | ENSP00000293404.2:p.Thr288= | |
| ENST00000293404.7:c.864C>G (NAGS) | ENSP00000293404.2:p.Thr288= | |
| ENST00000589767.1:c.771C>G (NAGS) | ENSP00000465408.1:p.Thr257= | |
| ENST00000592915.1:n.139C>G (NAGS) | ||
| NM_153006.2:c.864C>G (NAGS) | NP_694551.1:p.Thr288= | |
| XM_011524438.1:c.864C>G (NAGS) | XP_011522740.1:p.Thr288= | |
| XM_011524439.1:c.366C>G (NAGS) | XP_011522741.1:p.Thr122= | |
| XM_011525035.1:c.-463+17386G>C (PYY) | XP_011523337.1:n.-463+17386G>C | |
| XM_011524439.2:c.366C>G (NAGS) | XP_011522741.1:p.Thr122= | |
| NM_153006.3:c.864C>G (NAGS) MANE Select | NP_694551.1:p.Thr288= |