Linked Data
ClinVar Variation Id:
2860172
ClinVar RCV Id:
RCV003605055
dbSNP Id:
rs1428233890
gnomAD v3:
17-44007702-G-A
gnomAD v4:
17-44007702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007702G>A , CM000679.2:g.44007702G>A | GRCh38 |
| NC_000017.10:g.42085070G>A , CM000679.1:g.42085070G>A | GRCh37 |
| NC_000017.9:g.39440596G>A | NCBI36 |
| NG_008106.1:g.8039G>A | |
| NG_023338.1:g.1768C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1380G>A (NAGS) MANE Select | ENSP00000293404.2:p.Leu460= | |
| ENST00000293404.7:c.1380G>A (NAGS) | ENSP00000293404.2:p.Leu460= | |
| ENST00000589767.1:c.1311G>A (NAGS) | ENSP00000465408.1:p.Leu437= | |
| ENST00000592915.1:n.1268G>A (NAGS) | ||
| NM_153006.2:c.1380G>A (NAGS) | NP_694551.1:p.Leu460= | |
| XM_011524438.1:c.1268+208G>A (NAGS) | XP_011522740.1:n.1268+208G>A | |
| XM_011524439.1:c.882G>A (NAGS) | XP_011522741.1:p.Leu294= | |
| XM_011525035.1:c.-463+15870C>T (PYY) | XP_011523337.1:n.-463+15870C>T | |
| XM_011524439.2:c.882G>A (NAGS) | XP_011522741.1:p.Leu294= | |
| NM_153006.3:c.1380G>A (NAGS) MANE Select | NP_694551.1:p.Leu460= |