Linked Data
ClinVar Variation Id:
2789363
ClinVar RCV Id:
RCV003666821
dbSNP Id:
rs1847540470
gnomAD v3:
11-5226091-A-G
gnomAD v4:
11-5226091-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226091A>G , CM000673.2:g.5226091A>G | GRCh38 |
| NC_000011.9:g.5247321A>G , CM000673.1:g.5247321A>G | GRCh37 |
| NC_000011.8:g.5203897A>G | NCBI36 |
| NG_000007.3:g.71525T>C | |
| NG_059281.1:g.5981T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-365T>C | ENSP00000494175.1:n.316-365T>C | |
| ENST00000335295.4:c.316-365T>C MANE Select | ENSP00000333994.3:n.316-365T>C | |
| ENST00000475226.1:n.248-365T>C | ||
| ENST00000633227.1:c.*132-365T>C | ENSP00000488004.1:n.*132-365T>C | |
| NM_000518.4:c.316-365T>C | NP_000509.1:n.316-365T>C | |
| NM_000518.5:c.316-365T>C MANE Select | NP_000509.1:n.316-365T>C |