Linked Data
ClinVar Variation Id:
914222
ClinVar RCV Id:
RCV001168279
dbSNP Id:
rs971258024
gnomAD v2:
9-111630104-T-C
gnomAD v3:
9-108867824-T-C
gnomAD v4:
9-108867824-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108867824T>C , CM000671.2:g.108867824T>C | GRCh38 |
| NC_000009.11:g.111630104T>C , CM000671.1:g.111630104T>C | GRCh37 |
| NC_000009.10:g.110669925T>C | NCBI36 |
| NG_008788.1:g.71505A>G , LRG_251:g.71505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.*1291A>G MANE Select | ENSP00000363779.5:n.*1291A>G | |
| ENST00000495759.6:c.*3900A>G | ENSP00000433514.2:n.*3900A>G | |
| ENST00000674704.1:n.8375A>G | ||
| ENST00000674740.1:n.2173A>G | ||
| ENST00000674836.1:n.5903A>G | ||
| ENST00000674890.1:c.*2525A>G | ENSP00000501870.1:n.*2525A>G | |
| ENST00000674938.1:c.*1291A>G | ENSP00000502427.1:n.*1291A>G | |
| ENST00000674948.1:c.*1291A>G | ENSP00000501602.1:n.*1291A>G | |
| ENST00000675078.1:c.*1493A>G | ENSP00000501549.1:n.*1493A>G | |
| ENST00000675215.1:c.*4514A>G | ENSP00000502558.1:n.*4514A>G | |
| ENST00000675233.1:n.7117A>G | ||
| ENST00000675325.1:n.7247A>G | ||
| ENST00000675400.1:n.7142A>G | ||
| ENST00000675406.1:c.*1291A>G | ENSP00000501893.1:n.*1291A>G | |
| ENST00000675535.1:c.*2917A>G | ENSP00000501667.1:n.*2917A>G | |
| ENST00000675580.1:n.2443A>G | ||
| ENST00000675602.1:n.8338A>G | ||
| ENST00000675647.1:n.6454A>G | ||
| ENST00000675748.1:n.6924A>G | ||
| ENST00000675765.1:c.*2673A>G | ENSP00000502640.1:n.*2673A>G | |
| ENST00000675825.1:c.*1291A>G | ENSP00000502632.1:n.*1291A>G | |
| ENST00000675877.1:n.7134A>G | ||
| ENST00000675893.1:c.*6359A>G | ENSP00000502001.1:n.*6359A>G | |
| ENST00000675943.1:n.8905A>G | ||
| ENST00000675979.1:c.*4533A>G | ENSP00000502208.1:n.*4533A>G | |
| ENST00000676044.1:c.*2950A>G | ENSP00000502378.1:n.*2950A>G | |
| ENST00000676086.1:n.7075A>G | ||
| ENST00000676121.1:n.7118A>G | ||
| ENST00000676237.1:c.*1291A>G | ENSP00000501828.1:n.*1291A>G | |
| ENST00000676416.1:c.*1291A>G | ENSP00000501660.1:n.*1291A>G | |
| ENST00000676424.1:n.7128A>G | ||
| ENST00000676429.1:n.9759A>G | ||
| ENST00000374647.9:c.*1291A>G | ENSP00000363779.5:n.*1291A>G | |
| ENST00000495759.5:c.2533A>G | ||
| NM_003640.3:c.*1291A>G , LRG_251t1:c.*1291A>G | NP_003631.2:n.*1291A>G | |
| NM_001318360.1:c.*1291A>G | NP_001305289.1:n.*1291A>G | |
| NM_001330749.1:c.*1291A>G | NP_001317678.1:n.*1291A>G | |
| NM_003640.4:c.*1291A>G | NP_003631.2:n.*1291A>G | |
| NM_003640.5:c.*1291A>G MANE Select | NP_003631.2:n.*1291A>G | |
| NM_001318360.2:c.*1291A>G | NP_001305289.1:n.*1291A>G | |
| NM_001330749.2:c.*1291A>G | NP_001317678.1:n.*1291A>G |