Linked Data
ClinVar Variation Id:
2769177
ClinVar RCV Id:
RCV003499377
dbSNP Id:
rs2049088320
gnomAD v3:
17-44006192-C-T
gnomAD v4:
17-44006192-C-T
MyVariant Identifiers:
chr17:g.42083560C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006192C>T , CM000679.2:g.44006192C>T | GRCh38 |
| NC_000017.10:g.42083560C>T , CM000679.1:g.42083560C>T | GRCh37 |
| NC_000017.9:g.39439086C>T | NCBI36 |
| NG_008106.1:g.6529C>T | |
| NG_023338.1:g.3278G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.870C>T (NAGS) MANE Select | ENSP00000293404.2:p.Ile290= | |
| ENST00000293404.7:c.870C>T (NAGS) | ENSP00000293404.2:p.Ile290= | |
| ENST00000589767.1:c.777C>T (NAGS) | ENSP00000465408.1:p.Ile259= | |
| ENST00000592915.1:n.145C>T (NAGS) | ||
| NM_153006.2:c.870C>T (NAGS) | NP_694551.1:p.Ile290= | |
| XM_011524438.1:c.870C>T (NAGS) | XP_011522740.1:p.Ile290= | |
| XM_011524439.1:c.372C>T (NAGS) | XP_011522741.1:p.Ile124= | |
| XM_011525035.1:c.-463+17380G>A (PYY) | XP_011523337.1:n.-463+17380G>A | |
| XM_011524439.2:c.372C>T (NAGS) | XP_011522741.1:p.Ile124= | |
| NM_153006.3:c.870C>T (NAGS) MANE Select | NP_694551.1:p.Ile290= |