Linked Data
ClinVar Variation Id:
3176426
ClinVar RCV Id:
RCV004472302
dbSNP Id:
rs764754413
ExAC:
2:73868443 G / A
gnomAD v2:
2-73868443-G-A
gnomAD v3:
2-73641316-G-A
gnomAD v4:
2-73641316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641316G>A , CM000664.2:g.73641316G>A | GRCh38 |
| NC_000002.11:g.73868443G>A , CM000664.1:g.73868443G>A | GRCh37 |
| NC_000002.10:g.73721951G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.313C>T (NAT8) MANE Select | ENSP00000272425.3:p.Arg105Cys | |
| ENST00000652439.1:n.234G>A (ALMS1P1) | ||
| ENST00000272425.3:c.313C>T (NAT8) | ENSP00000272425.3:p.Arg105Cys | |
| NM_003960.3:c.313C>T (NAT8) | NP_003951.3:p.Arg105Cys | |
| NM_003960.4:c.313C>T (NAT8) MANE Select | NP_003951.3:p.Arg105Cys |