Linked Data
dbSNP Id:
rs1385341972
gnomAD v2:
17-42084996-C-G
gnomAD v3:
17-44007628-C-G
gnomAD v4:
17-44007628-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007628C>G , CM000679.2:g.44007628C>G | GRCh38 |
| NC_000017.10:g.42084996C>G , CM000679.1:g.42084996C>G | GRCh37 |
| NC_000017.9:g.39440522C>G | NCBI36 |
| NG_008106.1:g.7965C>G | |
| NG_023338.1:g.1842G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1306C>G (NAGS) MANE Select | ENSP00000293404.2:p.Leu436Val | |
| ENST00000293404.7:c.1306C>G (NAGS) | ENSP00000293404.2:p.Leu436Val | |
| ENST00000589767.1:c.1237C>G (NAGS) | ENSP00000465408.1:p.Leu413Val | |
| ENST00000592915.1:n.1194C>G (NAGS) | ||
| NM_153006.2:c.1306C>G (NAGS) | NP_694551.1:p.Leu436Val | |
| XM_011524438.1:c.1268+134C>G (NAGS) | XP_011522740.1:n.1268+134C>G | |
| XM_011524439.1:c.808C>G (NAGS) | XP_011522741.1:p.Leu270Val | |
| XM_011525035.1:c.-463+15944G>C (PYY) | XP_011523337.1:n.-463+15944G>C | |
| XM_011524439.2:c.808C>G (NAGS) | XP_011522741.1:p.Leu270Val | |
| NM_153006.3:c.1306C>G (NAGS) MANE Select | NP_694551.1:p.Leu436Val |