Linked Data
ClinVar Variation Id:
2165742
ClinVar RCV Id:
RCV003090137
dbSNP Id:
rs978738847
gnomAD v2:
17-42083566-C-G
gnomAD v3:
17-44006198-C-G
gnomAD v4:
17-44006198-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006198C>G , CM000679.2:g.44006198C>G | GRCh38 |
| NC_000017.10:g.42083566C>G , CM000679.1:g.42083566C>G | GRCh37 |
| NC_000017.9:g.39439092C>G | NCBI36 |
| NG_008106.1:g.6535C>G | |
| NG_023338.1:g.3272G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.876C>G (NAGS) MANE Select | ENSP00000293404.2:p.Phe292Leu | |
| ENST00000293404.7:c.876C>G (NAGS) | ENSP00000293404.2:p.Phe292Leu | |
| ENST00000589767.1:c.783C>G (NAGS) | ENSP00000465408.1:p.Phe261Leu | |
| ENST00000592915.1:n.151C>G (NAGS) | ||
| NM_153006.2:c.876C>G (NAGS) | NP_694551.1:p.Phe292Leu | |
| XM_011524438.1:c.876C>G (NAGS) | XP_011522740.1:p.Phe292Leu | |
| XM_011524439.1:c.378C>G (NAGS) | XP_011522741.1:p.Phe126Leu | |
| XM_011525035.1:c.-463+17374G>C (PYY) | XP_011523337.1:n.-463+17374G>C | |
| XM_011524439.2:c.378C>G (NAGS) | XP_011522741.1:p.Phe126Leu | |
| NM_153006.3:c.876C>G (NAGS) MANE Select | NP_694551.1:p.Phe292Leu |