Linked Data
ClinVar Variation Id:
333312
dbSNP Id:
rs769110777
ExAC:
2:198360115 T / C
gnomAD v2:
2-198360115-T-C
gnomAD v3:
2-197495391-T-C
gnomAD v4:
2-197495391-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197495391T>C , CM000664.2:g.197495391T>C | GRCh38 |
| NC_000002.11:g.198360115T>C , CM000664.1:g.198360115T>C | GRCh37 |
| NC_000002.10:g.198068360T>C | NCBI36 |
| NG_008914.1:g.395T>C | |
| NG_008915.1:g.9884A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388968.8:c.428-15A>G MANE Select | ENSP00000373620.3:n.428-15A>G | |
| ENST00000418022.2:c.428-15A>G | ENSP00000412227.2:n.428-15A>G | |
| ENST00000426480.2:c.428-15A>G | ENSP00000414446.2:n.428-15A>G | |
| ENST00000428204.6:c.428-15A>G | ENSP00000396460.2:n.428-15A>G | |
| ENST00000430176.6:c.428-15A>G | ENSP00000393670.2:n.428-15A>G | |
| ENST00000439605.2:c.428-15A>G | ENSP00000402478.2:n.428-15A>G | |
| ENST00000440114.2:c.*234-15A>G | ENSP00000390404.1:n.*234-15A>G | |
| ENST00000452200.6:c.428-15A>G | ENSP00000412717.2:n.428-15A>G | |
| ENST00000461097.2:n.2214A>G | ||
| ENST00000476746.6:n.529-15A>G | ||
| ENST00000676933.1:c.428-15A>G | ENSP00000503144.1:n.428-15A>G | |
| ENST00000677403.1:c.428-15A>G | ENSP00000504667.1:n.428-15A>G | |
| ENST00000677454.1:c.428-15A>G | ENSP00000503295.1:n.428-15A>G | |
| ENST00000677792.1:c.428-15A>G | ENSP00000504645.1:n.428-15A>G | |
| ENST00000677913.1:c.428-15A>G | ENSP00000503139.1:n.428-15A>G | |
| ENST00000678170.1:c.427+1749A>G | ENSP00000503910.1:n.427+1749A>G | |
| ENST00000678545.1:c.428-15A>G | ENSP00000502920.1:n.428-15A>G | |
| ENST00000678621.1:c.428-15A>G | ENSP00000504328.1:n.428-15A>G | |
| ENST00000678761.1:c.428-15A>G | ENSP00000503894.1:n.428-15A>G | |
| ENST00000678969.1:n.528-15A>G | ||
| ENST00000679291.1:c.428-15A>G | ENSP00000504417.1:n.428-15A>G | |
| ENST00000345042.6:c.428-15A>G | ENSP00000340019.2:n.428-15A>G | |
| ENST00000388968.7:c.428-15A>G | ENSP00000373620.3:n.428-15A>G | |
| ENST00000430176.5:c.428-15A>G | ENSP00000393670.1:n.428-15A>G | |
| ENST00000440114.1:c.*234-15A>G | ENSP00000390404.1:n.*234-15A>G | |
| ENST00000452200.5:c.428-15A>G | ENSP00000412717.1:n.428-15A>G | |
| ENST00000476746.5:n.528-15A>G | ||
| ENST00000486181.5:n.369-15A>G | ||
| NM_002156.4:c.428-15A>G | NP_002147.2:n.428-15A>G | |
| NM_199440.1:c.428-15A>G | NP_955472.1:n.428-15A>G | |
| XM_005246518.2:c.428-15A>G | XP_005246575.1:n.428-15A>G | |
| NM_002156.5:c.428-15A>G MANE Select | NP_002147.2:n.428-15A>G | |
| NM_199440.2:c.428-15A>G | NP_955472.1:n.428-15A>G |