Linked Data
dbSNP Id:
rs1430174905
gnomAD v2:
17-42083498-G-C
gnomAD v3:
17-44006130-G-C
gnomAD v4:
17-44006130-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006130G>C , CM000679.2:g.44006130G>C | GRCh38 |
| NC_000017.10:g.42083498G>C , CM000679.1:g.42083498G>C | GRCh37 |
| NC_000017.9:g.39439024G>C | NCBI36 |
| NG_008106.1:g.6467G>C | |
| NG_023338.1:g.3340C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.808G>C (NAGS) MANE Select | ENSP00000293404.2:p.Val270Leu | |
| ENST00000293404.7:c.808G>C (NAGS) | ENSP00000293404.2:p.Val270Leu | |
| ENST00000589767.1:c.715G>C (NAGS) | ENSP00000465408.1:p.Val239Leu | |
| ENST00000592915.1:n.83G>C (NAGS) | ||
| NM_153006.2:c.808G>C (NAGS) | NP_694551.1:p.Val270Leu | |
| XM_011524438.1:c.808G>C (NAGS) | XP_011522740.1:p.Val270Leu | |
| XM_011524439.1:c.310G>C (NAGS) | XP_011522741.1:p.Val104Leu | |
| XM_011525035.1:c.-463+17442C>G (PYY) | XP_011523337.1:n.-463+17442C>G | |
| XM_011524439.2:c.310G>C (NAGS) | XP_011522741.1:p.Val104Leu | |
| NM_153006.3:c.808G>C (NAGS) MANE Select | NP_694551.1:p.Val270Leu |