Linked Data
ClinVar Variation Id:
2116479
ClinVar RCV Id:
RCV003035026
dbSNP Id:
rs1415745864
gnomAD v2:
17-42083468-C-A
gnomAD v3:
17-44006100-C-A
gnomAD v4:
17-44006100-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006100C>A , CM000679.2:g.44006100C>A | GRCh38 |
| NC_000017.10:g.42083468C>A , CM000679.1:g.42083468C>A | GRCh37 |
| NC_000017.9:g.39438994C>A | NCBI36 |
| NG_008106.1:g.6437C>A | |
| NG_023338.1:g.3370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.778C>A (NAGS) MANE Select | ENSP00000293404.2:p.Pro260Thr | |
| ENST00000293404.7:c.778C>A (NAGS) | ENSP00000293404.2:p.Pro260Thr | |
| ENST00000589767.1:c.685C>A (NAGS) | ENSP00000465408.1:p.Pro229Thr | |
| ENST00000592915.1:n.53C>A (NAGS) | ||
| NM_153006.2:c.778C>A (NAGS) | NP_694551.1:p.Pro260Thr | |
| XM_011524438.1:c.778C>A (NAGS) | XP_011522740.1:p.Pro260Thr | |
| XM_011524439.1:c.280C>A (NAGS) | XP_011522741.1:p.Pro94Thr | |
| XM_011525035.1:c.-463+17472G>T (PYY) | XP_011523337.1:n.-463+17472G>T | |
| XM_011524439.2:c.280C>A (NAGS) | XP_011522741.1:p.Pro94Thr | |
| NM_153006.3:c.778C>A (NAGS) MANE Select | NP_694551.1:p.Pro260Thr |