Linked Data
ClinVar Variation Id:
2988153
ClinVar RCV Id:
RCV003844336
gnomAD v4:
17-44006138-C-T
MyVariant Identifiers:
chr17:g.42083506C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006138C>T , CM000679.2:g.44006138C>T | GRCh38 |
| NC_000017.10:g.42083506C>T , CM000679.1:g.42083506C>T | GRCh37 |
| NC_000017.9:g.39439032C>T | NCBI36 |
| NG_008106.1:g.6475C>T | |
| NG_023338.1:g.3332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.816C>T (NAGS) MANE Select | ENSP00000293404.2:p.Leu272= | |
| ENST00000293404.7:c.816C>T (NAGS) | ENSP00000293404.2:p.Leu272= | |
| ENST00000589767.1:c.723C>T (NAGS) | ENSP00000465408.1:p.Leu241= | |
| ENST00000592915.1:n.91C>T (NAGS) | ||
| NM_153006.2:c.816C>T (NAGS) | NP_694551.1:p.Leu272= | |
| XM_011524438.1:c.816C>T (NAGS) | XP_011522740.1:p.Leu272= | |
| XM_011524439.1:c.318C>T (NAGS) | XP_011522741.1:p.Leu106= | |
| XM_011525035.1:c.-463+17434G>A (PYY) | XP_011523337.1:n.-463+17434G>A | |
| XM_011524439.2:c.318C>T (NAGS) | XP_011522741.1:p.Leu106= | |
| NM_153006.3:c.816C>T (NAGS) MANE Select | NP_694551.1:p.Leu272= |