Linked Data
ClinVar Variation Id:
1101549
ClinVar RCV Id:
RCV001424530
dbSNP Id:
rs1171066992
MyVariant Identifiers:
chr17:g.42083500G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006132G>T , CM000679.2:g.44006132G>T | GRCh38 |
| NC_000017.10:g.42083500G>T , CM000679.1:g.42083500G>T | GRCh37 |
| NC_000017.9:g.39439026G>T | NCBI36 |
| NG_008106.1:g.6469G>T | |
| NG_023338.1:g.3338C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.810G>T (NAGS) MANE Select | ENSP00000293404.2:p.Val270= | |
| ENST00000293404.7:c.810G>T (NAGS) | ENSP00000293404.2:p.Val270= | |
| ENST00000589767.1:c.717G>T (NAGS) | ENSP00000465408.1:p.Val239= | |
| ENST00000592915.1:n.85G>T (NAGS) | ||
| NM_153006.2:c.810G>T (NAGS) | NP_694551.1:p.Val270= | |
| XM_011524438.1:c.810G>T (NAGS) | XP_011522740.1:p.Val270= | |
| XM_011524439.1:c.312G>T (NAGS) | XP_011522741.1:p.Val104= | |
| XM_011525035.1:c.-463+17440C>A (PYY) | XP_011523337.1:n.-463+17440C>A | |
| XM_011524439.2:c.312G>T (NAGS) | XP_011522741.1:p.Val104= | |
| NM_153006.3:c.810G>T (NAGS) MANE Select | NP_694551.1:p.Val270= |