Linked Data
ClinVar Variation Id:
2877332
ClinVar RCV Id:
RCV003602749
dbSNP Id:
rs1253375794
gnomAD v3:
17-44006621-C-T
gnomAD v4:
17-44006621-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006621C>T , CM000679.2:g.44006621C>T | GRCh38 |
| NC_000017.10:g.42083989C>T , CM000679.1:g.42083989C>T | GRCh37 |
| NC_000017.9:g.39439515C>T | NCBI36 |
| NG_008106.1:g.6958C>T | |
| NG_023338.1:g.2849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1008C>T (NAGS) MANE Select | ENSP00000293404.2:p.Ile336= | |
| ENST00000293404.7:c.1008C>T (NAGS) | ENSP00000293404.2:p.Ile336= | |
| ENST00000589767.1:c.915C>T (NAGS) | ENSP00000465408.1:p.Ile305= | |
| ENST00000592915.1:n.283C>T (NAGS) | ||
| NM_153006.2:c.1008C>T (NAGS) | NP_694551.1:p.Ile336= | |
| XM_011524438.1:c.1008C>T (NAGS) | XP_011522740.1:p.Ile336= | |
| XM_011524439.1:c.510C>T (NAGS) | XP_011522741.1:p.Ile170= | |
| XM_011525035.1:c.-463+16951G>A (PYY) | XP_011523337.1:n.-463+16951G>A | |
| XM_011524439.2:c.510C>T (NAGS) | XP_011522741.1:p.Ile170= | |
| NM_153006.3:c.1008C>T (NAGS) MANE Select | NP_694551.1:p.Ile336= |