Linked Data
dbSNP Id:
rs1676392902
gnomAD v4:
2-73641296-C-T
MyVariant Identifiers:
chr2:g.73868423C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641296C>T , CM000664.2:g.73641296C>T | GRCh38 |
| NC_000002.11:g.73868423C>T , CM000664.1:g.73868423C>T | GRCh37 |
| NC_000002.10:g.73721931C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.333G>A (NAT8) MANE Select | ENSP00000272425.3:p.Val111= | |
| ENST00000652439.1:n.214C>T (ALMS1P1) | ||
| ENST00000272425.3:c.333G>A (NAT8) | ENSP00000272425.3:p.Val111= | |
| NM_003960.3:c.333G>A (NAT8) | NP_003951.3:p.Val111= | |
| NM_003960.4:c.333G>A (NAT8) MANE Select | NP_003951.3:p.Val111= |