Linked Data
ClinVar Variation Id:
293082
dbSNP Id:
rs116418256
gnomAD v2:
1-160008587-T-C
gnomAD v3:
1-160038797-T-C
gnomAD v4:
1-160038797-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160038797T>C , CM000663.2:g.160038797T>C | GRCh38 |
| NC_000001.10:g.160008587T>C , CM000663.1:g.160008587T>C | GRCh37 |
| NC_000001.9:g.158275211T>C | NCBI36 |
| NG_016411.1:g.36375A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+3037A>G | ||
| ENST00000636689.1:n.646A>G | ||
| ENST00000637644.1:c.487+3249A>G | ENSP00000490282.1:n.487+3249A>G | |
| ENST00000638728.1:c.*2596A>G | ENSP00000492619.1:n.*2596A>G | |
| ENST00000638840.1:c.2724A>G | ||
| ENST00000639408.1:c.587+1705A>G | ENSP00000491635.1:n.587+1705A>G | |
| ENST00000640017.1:c.2474A>G | ENSP00000491337.1:n.2474A>G | |
| ENST00000640914.1:c.224+1705A>G | ||
| ENST00000644903.1:c.*2596A>G MANE Select | ENSP00000495557.1:n.*2596A>G | |
| ENST00000368089.3:c.*2596A>G | ENSP00000357068.3:n.*2596A>G | |
| NM_002241.4:c.*2596A>G | NP_002232.2:n.*2596A>G | |
| NM_002241.5:c.*2596A>G MANE Select | NP_002232.2:n.*2596A>G |