Linked Data
ClinVar Variation Id:
1493685
ClinVar RCV Id:
RCV001986666
dbSNP Id:
rs899402990
gnomAD v2:
17-42083411-G-T
gnomAD v3:
17-44006043-G-T
gnomAD v4:
17-44006043-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006043G>T , CM000679.2:g.44006043G>T | GRCh38 |
| NC_000017.10:g.42083411G>T , CM000679.1:g.42083411G>T | GRCh37 |
| NC_000017.9:g.39438937G>T | NCBI36 |
| NG_008106.1:g.6380G>T | |
| NG_023338.1:g.3427C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.721G>T (NAGS) MANE Select | ENSP00000293404.2:p.Val241Leu | |
| ENST00000293404.7:c.721G>T (NAGS) | ENSP00000293404.2:p.Val241Leu | |
| ENST00000589767.1:c.628G>T (NAGS) | ENSP00000465408.1:p.Val210Leu | |
| NM_153006.2:c.721G>T (NAGS) | NP_694551.1:p.Val241Leu | |
| XM_011524438.1:c.721G>T (NAGS) | XP_011522740.1:p.Val241Leu | |
| XM_011524439.1:c.223G>T (NAGS) | XP_011522741.1:p.Val75Leu | |
| XM_011525035.1:c.-463+17529C>A (PYY) | XP_011523337.1:n.-463+17529C>A | |
| XM_011524439.2:c.223G>T (NAGS) | XP_011522741.1:p.Val75Leu | |
| NM_153006.3:c.721G>T (NAGS) MANE Select | NP_694551.1:p.Val241Leu |