Linked Data
ClinVar Variation Id:
18256
ClinVar RCV Id:
RCV000019918
dbSNP Id:
rs267606643
gnomAD v4:
1-33014526-T-C
PubMed:
PMID:19043416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33014526T>C , CM000663.2:g.33014526T>C | GRCh38 |
| NC_000001.10:g.33480127T>C , CM000663.1:g.33480127T>C | GRCh37 |
| NC_000001.9:g.33252714T>C | NCBI36 |
| NG_016269.1:g.27366A>G , LRG_133:g.27366A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000469238.2:n.527A>G | ||
| ENST00000491241.2:c.*483A>G | ENSP00000512049.1:n.*483A>G | |
| ENST00000550338.6:c.*483A>G | ENSP00000450008.1:n.*483A>G | |
| ENST00000695598.1:n.1633A>G | ||
| ENST00000695599.1:c.*5376A>G | ENSP00000512046.1:n.*5376A>G | |
| ENST00000695600.1:n.689A>G | ||
| ENST00000695601.1:c.*483A>G | ENSP00000512047.1:n.*483A>G | |
| ENST00000695602.1:c.*483A>G | ENSP00000512048.1:n.*483A>G | |
| ENST00000695603.1:n.527A>G | ||
| ENST00000695604.1:c.*300A>G | ENSP00000512050.1:n.*300A>G | |
| ENST00000354858.11:c.368A>G | ENSP00000346921.7:p.Asp123Gly | |
| ENST00000373449.7:c.494A>G | ENSP00000362548.2:p.Asp165Gly | |
| ENST00000672308.1:n.529A>G | ||
| ENST00000672715.1:c.494A>G MANE Select | ENSP00000499935.1:p.Asp165Gly | |
| ENST00000354858.10:c.494A>G | ENSP00000346921.6:p.Asp165Gly | |
| ENST00000373449.6:c.494A>G | ENSP00000362548.2:p.Asp165Gly | |
| ENST00000466029.1:n.180A>G | ||
| ENST00000467905.5:c.494A>G | ENSP00000447082.1:p.Asp165Gly | |
| ENST00000469238.1:n.262A>G | ||
| ENST00000480134.5:c.399A>G | ENSP00000450109.1:p.Arg133= | |
| ENST00000548033.5:c.368A>G | ENSP00000449003.1:p.Asp123Gly | |
| ENST00000550338.5:c.*483A>G | ENSP00000450008.1:n.*483A>G | |
| ENST00000629371.2:c.399A>G | ENSP00000486507.1:p.Arg133= | |
| NM_001199199.1:c.470A>G | NP_001186128.1:p.Asp157Gly | |
| NM_001625.3:c.494A>G | NP_001616.1:p.Asp165Gly | |
| NM_013411.4:c.494A>G | NP_037543.1:p.Asp165Gly | |
| NR_037591.1:n.695A>G | ||
| NR_037592.1:n.695A>G | ||
| XM_011540967.1:c.399A>G | XP_011539269.1:p.Arg133= | |
| XR_246248.1:n.534A>G | ||
| XR_946575.1:n.439A>G | ||
| NM_001319139.1:c.350A>G | NP_001306068.1:p.Asp117Gly | |
| NM_001319140.1:c.350A>G | NP_001306069.1:p.Asp117Gly | |
| NM_001319141.1:c.494A>G | NP_001306070.1:p.Asp165Gly | |
| NM_001319142.1:c.368A>G | NP_001306071.1:p.Asp123Gly | |
| NM_001319143.1:c.399A>G | NP_001306072.1:p.Arg133= | |
| NR_134976.1:n.482A>G | ||
| XR_001737036.1:n.439A>G | ||
| XR_246248.2:n.534A>G | ||
| NM_001199199.2:c.470A>G | NP_001186128.1:p.Asp157Gly | |
| NM_001319139.2:c.350A>G | NP_001306068.1:p.Asp117Gly | |
| NM_001319141.2:c.494A>G | NP_001306070.1:p.Asp165Gly | |
| NM_001319142.2:c.368A>G | NP_001306071.1:p.Asp123Gly | |
| NM_001625.4:c.494A>G MANE Select | NP_001616.1:p.Asp165Gly | |
| NM_013411.5:c.494A>G | NP_037543.1:p.Asp165Gly | |
| NR_134976.2:n.454A>G | ||
| NM_001199199.3:c.470A>G | NP_001186128.1:p.Asp157Gly | |
| NM_001319139.3:c.350A>G | NP_001306068.1:p.Asp117Gly | |
| NM_001319140.2:c.350A>G | NP_001306069.1:p.Asp117Gly | |
| NM_001319141.3:c.494A>G | NP_001306070.1:p.Asp165Gly | |
| NM_001319142.3:c.368A>G | NP_001306071.1:p.Asp123Gly | |
| NM_001319143.2:c.399A>G | NP_001306072.1:p.Arg133= | |
| NR_134976.3:n.454A>G |