Linked Data
dbSNP Id:
rs376552207
ExAC:
17:42084903 T / C
gnomAD v2:
17-42084903-T-C
gnomAD v3:
17-44007535-T-C
gnomAD v4:
17-44007535-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007535T>C , CM000679.2:g.44007535T>C | GRCh38 |
| NC_000017.10:g.42084903T>C , CM000679.1:g.42084903T>C | GRCh37 |
| NC_000017.9:g.39440429T>C | NCBI36 |
| NG_008106.1:g.7872T>C | |
| NG_023338.1:g.1935A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293404.8:c.1268+41T>C (NAGS) MANE Select | ENSP00000293404.2:n.1268+41T>C | |
| ENST00000293404.7:c.1268+41T>C (NAGS) | ENSP00000293404.2:n.1268+41T>C | |
| ENST00000589767.1:c.1176-32T>C (NAGS) | ENSP00000465408.1:n.1176-32T>C | |
| ENST00000592915.1:n.1156+41T>C (NAGS) | ||
| NM_153006.2:c.1268+41T>C (NAGS) | NP_694551.1:n.1268+41T>C | |
| XM_011524438.1:c.1268+41T>C (NAGS) | XP_011522740.1:n.1268+41T>C | |
| XM_011524439.1:c.770+41T>C (NAGS) | XP_011522741.1:n.770+41T>C | |
| XM_011525035.1:c.-463+16037A>G (PYY) | XP_011523337.1:n.-463+16037A>G | |
| XM_011524439.2:c.770+41T>C (NAGS) | XP_011522741.1:n.770+41T>C | |
| NM_153006.3:c.1268+41T>C (NAGS) MANE Select | NP_694551.1:n.1268+41T>C |