Linked Data
ClinVar Variation Id:
720099
ClinVar RCV Id:
RCV000893359
dbSNP Id:
rs62000430
ExAC:
2:73868394 A / G
gnomAD v2:
2-73868394-A-G
gnomAD v3:
2-73641267-A-G
gnomAD v4:
2-73641267-A-G
COSMIC:
COSM3396493
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641267A>G , CM000664.2:g.73641267A>G | GRCh38 |
| NC_000002.11:g.73868394A>G , CM000664.1:g.73868394A>G | GRCh37 |
| NC_000002.10:g.73721902A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.362T>C (NAT8) MANE Select | ENSP00000272425.3:p.Met121Thr | |
| ENST00000652439.1:n.185A>G (ALMS1P1) | ||
| ENST00000272425.3:c.362T>C (NAT8) | ENSP00000272425.3:p.Met121Thr | |
| NM_003960.3:c.362T>C (NAT8) | NP_003951.3:p.Met121Thr | |
| NM_003960.4:c.362T>C (NAT8) MANE Select | NP_003951.3:p.Met121Thr |