Linked Data
ClinVar Variation Id:
508526
ClinVar RCV Id:
RCV000601583
dbSNP Id:
rs780595830
ExAC:
17:42082014 C / T
gnomAD v2:
17-42082014-C-T
gnomAD v4:
17-44004646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44004646C>T , CM000679.2:g.44004646C>T | GRCh38 |
| NC_000017.10:g.42082014C>T , CM000679.1:g.42082014C>T | GRCh37 |
| NC_000017.9:g.39437540C>T | NCBI36 |
| NG_008106.1:g.4983C>T | |
| NG_023338.1:g.4824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.-18C>T (NAGS) MANE Select | ENSP00000293404.2:n.-18C>T | |
| ENST00000293404.7:c.-18C>T (NAGS) | ENSP00000293404.2:n.-18C>T | |
| XM_011524438.1:c.-18C>T (NAGS) | XP_011522740.1:n.-18C>T | |
| XM_011525035.1:c.-463+18926G>A (PYY) | XP_011523337.1:n.-463+18926G>A | |
| NM_153006.3:c.-18C>T (NAGS) MANE Select | NP_694551.1:n.-18C>T |