Linked Data
ClinVar Variation Id:
3175115
ClinVar RCV Id:
RCV004466444
dbSNP Id:
rs764056505
ExAC:
19:47996722 T / C
gnomAD v2:
19-47996722-T-C
gnomAD v3:
19-47493465-T-C
gnomAD v4:
19-47493465-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47493465T>C , CM000681.2:g.47493465T>C | GRCh38 |
| NC_000019.9:g.47996722T>C , CM000681.1:g.47996722T>C | GRCh37 |
| NC_000019.8:g.52688534T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263354.8:c.371A>G (NAPA) MANE Select | ENSP00000263354.2:p.His124Arg | |
| ENST00000263354.7:c.371A>G (NAPA) | ENSP00000263354.2:p.His124Arg | |
| ENST00000593761.5:c.401A>G (NAPA) | ENSP00000472667.1:p.His134Arg | |
| ENST00000593905.5:n.176A>G (NAPA) | ||
| ENST00000594001.5:c.*66A>G (NAPA) | ENSP00000470654.1:n.*66A>G | |
| ENST00000594155.5:c.193A>G (NAPA) | ||
| ENST00000594288.5:n.356A>G (NAPA) | ||
| ENST00000594740.5:n.463A>G (NAPA) | ||
| ENST00000595227.5:c.254A>G (NAPA) | ENSP00000471520.1:p.His85Arg | |
| ENST00000595826.5:n.579A>G (NAPA) | ||
| ENST00000596892.5:n.185A>G (NAPA) | ||
| ENST00000597118.1:c.221A>G (NAPA) | ENSP00000471018.1:p.His74Arg | |
| ENST00000597274.5:c.*66A>G (NAPA) | ENSP00000470954.1:n.*66A>G | |
| ENST00000597778.5:n.1576A>G (NAPA) | ||
| ENST00000598615.5:c.59A>G (NAPA) | ENSP00000470946.1:p.His20Arg | |
| ENST00000601208.5:c.*395A>G (NAPA) | ENSP00000470665.1:n.*395A>G | |
| ENST00000601927.1:n.306A>G (NAPA) | ||
| ENST00000602082.5:n.256A>G (NAPA) | ||
| ENST00000602174.5:n.296A>G (NAPA) | ||
| NM_003827.3:c.371A>G (NAPA) | NP_003818.2:p.His124Arg | |
| NR_038452.1:n.262T>C (NAPA-AS1) | ||
| NR_038456.1:n.689A>G (NAPA) | ||
| NR_038457.1:n.492A>G (NAPA) | ||
| XM_011527436.1:c.221A>G (NAPA) | XP_011525738.1:p.His74Arg | |
| XM_011527437.1:c.59A>G (NAPA) | XP_011525739.1:p.His20Arg | |
| XR_002958377.1:n.503A>G (NAPA) | ||
| NM_003827.4:c.371A>G (NAPA) MANE Select | NP_003818.2:p.His124Arg | |
| NR_038456.2:n.494A>G (NAPA) | ||
| NR_038457.2:n.297A>G (NAPA) |