Linked Data
dbSNP Id:
rs778023213
ExAC:
17:42083946 C / T
gnomAD v2:
17-42083946-C-T
gnomAD v4:
17-44006578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006578C>T , CM000679.2:g.44006578C>T | GRCh38 |
| NC_000017.10:g.42083946C>T , CM000679.1:g.42083946C>T | GRCh37 |
| NC_000017.9:g.39439472C>T | NCBI36 |
| NG_008106.1:g.6915C>T | |
| NG_023338.1:g.2892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.965C>T (NAGS) MANE Select | ENSP00000293404.2:p.Ala322Val | |
| ENST00000293404.7:c.965C>T (NAGS) | ENSP00000293404.2:p.Ala322Val | |
| ENST00000589767.1:c.872C>T (NAGS) | ENSP00000465408.1:p.Ala291Val | |
| ENST00000592915.1:n.240C>T (NAGS) | ||
| NM_153006.2:c.965C>T (NAGS) | NP_694551.1:p.Ala322Val | |
| XM_011524438.1:c.965C>T (NAGS) | XP_011522740.1:p.Ala322Val | |
| XM_011524439.1:c.467C>T (NAGS) | XP_011522741.1:p.Ala156Val | |
| XM_011525035.1:c.-463+16994G>A (PYY) | XP_011523337.1:n.-463+16994G>A | |
| XM_011524439.2:c.467C>T (NAGS) | XP_011522741.1:p.Ala156Val | |
| NM_153006.3:c.965C>T (NAGS) MANE Select | NP_694551.1:p.Ala322Val |