Linked Data
ClinVar Variation Id:
2428
ClinVar RCV Id:
RCV000002530
dbSNP Id:
rs104894604
gnomAD v4:
17-44006584-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006584G>A , CM000679.2:g.44006584G>A | GRCh38 |
| NC_000017.10:g.42083952G>A , CM000679.1:g.42083952G>A | GRCh37 |
| NC_000017.9:g.39439478G>A | NCBI36 |
| NG_008106.1:g.6921G>A | |
| NG_023338.1:g.2886C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293404.8:c.971G>A (NAGS) MANE Select | ENSP00000293404.2:p.Trp324Ter | |
| ENST00000293404.7:c.971G>A (NAGS) | ENSP00000293404.2:p.Trp324Ter | |
| ENST00000589767.1:c.878G>A (NAGS) | ENSP00000465408.1:p.Trp293Ter | |
| ENST00000592915.1:n.246G>A (NAGS) | ||
| NM_153006.2:c.971G>A (NAGS) | NP_694551.1:p.Trp324Ter | |
| XM_011524438.1:c.971G>A (NAGS) | XP_011522740.1:p.Trp324Ter | |
| XM_011524439.1:c.473G>A (NAGS) | XP_011522741.1:p.Trp158Ter | |
| XM_011525035.1:c.-463+16988C>T (PYY) | XP_011523337.1:n.-463+16988C>T | |
| XM_011524439.2:c.473G>A (NAGS) | XP_011522741.1:p.Trp158Ter | |
| NM_153006.3:c.971G>A (NAGS) MANE Select | NP_694551.1:p.Trp324Ter |