Linked Data
ClinVar Variation Id:
2391867
ClinVar RCV Id:
RCV004232199
dbSNP Id:
rs141315849
ExAC:
2:73868421 G / T
gnomAD v2:
2-73868421-G-T
gnomAD v3:
2-73641294-G-T
gnomAD v4:
2-73641294-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641294G>T , CM000664.2:g.73641294G>T | GRCh38 |
| NC_000002.11:g.73868421G>T , CM000664.1:g.73868421G>T | GRCh37 |
| NC_000002.10:g.73721929G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.335C>A (NAT8) MANE Select | ENSP00000272425.3:p.Ala112Asp | |
| ENST00000652439.1:n.212G>T (ALMS1P1) | ||
| ENST00000272425.3:c.335C>A (NAT8) | ENSP00000272425.3:p.Ala112Asp | |
| NM_003960.3:c.335C>A (NAT8) | NP_003951.3:p.Ala112Asp | |
| NM_003960.4:c.335C>A (NAT8) MANE Select | NP_003951.3:p.Ala112Asp |