Linked Data
dbSNP Id:
rs770559942
ExAC:
17:42084985 T / C
gnomAD v2:
17-42084985-T-C
gnomAD v4:
17-44007617-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007617T>C , CM000679.2:g.44007617T>C | GRCh38 |
| NC_000017.10:g.42084985T>C , CM000679.1:g.42084985T>C | GRCh37 |
| NC_000017.9:g.39440511T>C | NCBI36 |
| NG_008106.1:g.7954T>C | |
| NG_023338.1:g.1853A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293404.8:c.1295T>C (NAGS) MANE Select | ENSP00000293404.2:p.Met432Thr | |
| ENST00000293404.7:c.1295T>C (NAGS) | ENSP00000293404.2:p.Met432Thr | |
| ENST00000589767.1:c.1226T>C (NAGS) | ENSP00000465408.1:p.Met409Thr | |
| ENST00000592915.1:n.1183T>C (NAGS) | ||
| NM_153006.2:c.1295T>C (NAGS) | NP_694551.1:p.Met432Thr | |
| XM_011524438.1:c.1268+123T>C (NAGS) | XP_011522740.1:n.1268+123T>C | |
| XM_011524439.1:c.797T>C (NAGS) | XP_011522741.1:p.Met266Thr | |
| XM_011525035.1:c.-463+15955A>G (PYY) | XP_011523337.1:n.-463+15955A>G | |
| XM_011524439.2:c.797T>C (NAGS) | XP_011522741.1:p.Met266Thr | |
| NM_153006.3:c.1295T>C (NAGS) MANE Select | NP_694551.1:p.Met432Thr |