Linked Data
ClinVar Variation Id:
208306
dbSNP Id:
rs563600593
gnomAD v2:
10-48389325-T-C
gnomAD v3:
10-47350037-A-G
gnomAD v4:
10-47350037-A-G
PubMed:
PMID:19074801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350037A>G , CM000672.2:g.47350037A>G | GRCh38 |
| NC_000010.10:g.48389325T>C , CM000672.1:g.48389325T>C | GRCh37 |
| NC_000010.9:g.48009331T>C | NCBI36 |
| NG_029718.1:g.6667A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1553A>G MANE Select | ENSP00000463151.1:p.Gln518Arg | |
| ENST00000584701.1:c.1553A>G | ENSP00000463151.1:p.Gln518Arg | |
| NM_002900.2:c.1553A>G | NP_002891.1:p.Gln518Arg | |
| NM_002900.3:c.1553A>G MANE Select | NP_002891.1:p.Gln518Arg |