Linked Data
dbSNP Id:
rs374867034
gnomAD v2:
1-17727778-G-A
gnomAD v3:
1-17401282-G-A
gnomAD v4:
1-17401282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401282G>A , CM000663.2:g.17401282G>A | GRCh38 |
| NC_000001.10:g.17727778G>A , CM000663.1:g.17727778G>A | GRCh37 |
| NC_000001.9:g.17600365G>A | NCBI36 |
| NG_032943.1:g.34037G>A | |
| NG_032943.2:g.34037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1929G>A MANE Select | ENSP00000483125.1:p.Leu643= | |
| NM_207421.4:c.1929G>A MANE Select | NP_997304.3:p.Leu643= |