Linked Data
ClinVar Variation Id:
2992455
ClinVar RCV Id:
RCV003855582
dbSNP Id:
rs377221164
gnomAD v2:
11-112103970-T-G
gnomAD v3:
11-112233247-T-G
gnomAD v4:
11-112233247-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112233247T>G , CM000673.2:g.112233247T>G | GRCh38 |
| NC_000011.9:g.112103970T>G , CM000673.1:g.112103970T>G | GRCh37 |
| NC_000011.8:g.111609180T>G | NCBI36 |
| NG_008743.1:g.11883T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.314+14T>G MANE Select | ENSP00000280362.3:n.314+14T>G | |
| ENST00000280362.7:c.314+14T>G | ENSP00000280362.3:n.314+14T>G | |
| ENST00000524931.1:c.110+14T>G | ENSP00000434688.1:n.110+14T>G | |
| ENST00000525803.1:c.*48+14T>G | ENSP00000431750.1:n.*48+14T>G | |
| ENST00000527428.5:n.488+14T>G | ||
| ENST00000527635.1:n.355+14T>G | ||
| ENST00000528679.5:c.*123+14T>G | ENSP00000435895.1:n.*123+14T>G | |
| ENST00000531175.1:n.279T>G | ||
| ENST00000531673.5:c.*123+14T>G | ENSP00000433469.1:n.*123+14T>G | |
| NM_000317.2:c.314+14T>G | NP_000308.1:n.314+14T>G | |
| XM_011542943.1:c.275+14T>G | XP_011541245.1:n.275+14T>G | |
| NM_000317.3:c.314+14T>G MANE Select | NP_000308.1:n.314+14T>G |