Linked Data
ClinVar Variation Id:
1559
dbSNP Id:
rs326
gnomAD v2:
8-19819439-A-G
gnomAD v3:
8-19961928-A-G
gnomAD v4:
8-19961928-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19961928A>G , CM000670.2:g.19961928A>G | GRCh38 |
| NC_000008.10:g.19819439A>G , CM000670.1:g.19819439A>G | GRCh37 |
| NC_000008.9:g.19863719A>G | NCBI36 |
| NG_008855.1:g.27858A>G | |
| NG_008855.2:g.65212A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1323-187A>G MANE Select | ENSP00000497642.1:n.1323-187A>G | |
| ENST00000650478.1:c.263-187A>G | ENSP00000497560.1:n.263-187A>G | |
| ENST00000311322.8:c.1323-187A>G | ENSP00000309757.6:n.1323-187A>G | |
| NM_000237.2:c.1323-187A>G | NP_000228.1:n.1323-187A>G | |
| NM_000237.3:c.1323-187A>G MANE Select | NP_000228.1:n.1323-187A>G |