Linked Data
dbSNP Id:
rs546259119
ExAC:
2:73868362 A / G
gnomAD v2:
2-73868362-A-G
gnomAD v3:
2-73641235-A-G
gnomAD v4:
2-73641235-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641235A>G , CM000664.2:g.73641235A>G | GRCh38 |
| NC_000002.11:g.73868362A>G , CM000664.1:g.73868362A>G | GRCh37 |
| NC_000002.10:g.73721870A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.394T>C (NAT8) MANE Select | ENSP00000272425.3:p.Leu132= | |
| ENST00000652439.1:n.153A>G (ALMS1P1) | ||
| ENST00000272425.3:c.394T>C (NAT8) | ENSP00000272425.3:p.Leu132= | |
| NM_003960.3:c.394T>C (NAT8) | NP_003951.3:p.Leu132= | |
| NM_003960.4:c.394T>C (NAT8) MANE Select | NP_003951.3:p.Leu132= |