Linked Data
ClinVar Variation Id:
1938095
ClinVar RCV Id:
RCV002662459
dbSNP Id:
rs767198265
ExAC:
6:132211585 A / G
gnomAD v2:
6-132211585-A-G
gnomAD v4:
6-131890445-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890445A>G , CM000668.2:g.131890445A>G | GRCh38 |
| NC_000006.11:g.132211585A>G , CM000668.1:g.132211585A>G | GRCh37 |
| NC_000006.10:g.132253278A>G | NCBI36 |
| NG_008206.1:g.87430A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1143A>G | ||
| ENST00000647893.1:c.2712A>G MANE Select | ENSP00000498074.1:p.Arg904= | |
| ENST00000360971.6:c.2712A>G | ENSP00000354238.2:p.Arg904= | |
| ENST00000513998.5:c.*1549A>G | ENSP00000422424.1:n.*1549A>G | |
| NM_006208.2:c.2712A>G | NP_006199.2:p.Arg904= | |
| XM_011535896.1:c.1602A>G | XP_011534198.1:p.Arg534= | |
| NM_006208.3:c.2712A>G MANE Select | NP_006199.2:p.Arg904= |