Linked Data
ClinVar Variation Id:
334303
ClinVar RCV Id:
RCV000395658
dbSNP Id:
rs186052380
ExAC:
2:217347730 T / G
gnomAD v2:
2-217347730-T-G
gnomAD v3:
2-216483007-T-G
gnomAD v4:
2-216483007-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216483007T>G , CM000664.2:g.216483007T>G | GRCh38 |
| NC_000002.11:g.217347730T>G , CM000664.1:g.217347730T>G | GRCh37 |
| NC_000002.10:g.217055975T>G | NCBI36 |
| NG_009771.1:g.75594T>G , LRG_108:g.75594T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425815.6:c.*30T>G | ENSP00000394410.2:n.*30T>G | |
| ENST00000430374.6:c.*30T>G | ENSP00000405077.2:n.*30T>G | |
| ENST00000444508.6:c.*30T>G | ENSP00000398969.2:n.*30T>G | |
| ENST00000697899.1:c.*30T>G | ENSP00000513470.1:n.*30T>G | |
| ENST00000697903.1:c.*1382T>G | ENSP00000513472.1:n.*1382T>G | |
| ENST00000697904.1:c.*1382T>G | ENSP00000513473.1:n.*1382T>G | |
| ENST00000697905.1:c.*1382T>G | ENSP00000513474.1:n.*1382T>G | |
| ENST00000697906.1:c.*30T>G | ENSP00000513475.1:n.*30T>G | |
| ENST00000697907.1:c.*1753T>G | ENSP00000513476.1:n.*1753T>G | |
| ENST00000697909.1:n.1787T>G | ||
| ENST00000697910.1:n.1292T>G | ||
| ENST00000357276.9:c.*30T>G MANE Select | ENSP00000349823.4:n.*30T>G | |
| ENST00000357276.8:c.*30T>G | ENSP00000349823.4:n.*30T>G | |
| ENST00000358207.9:c.*30T>G | ENSP00000350940.5:n.*30T>G | |
| ENST00000392128.6:c.2421T>G | ENSP00000375974.2:n.2421T>G | |
| NM_001127207.1:c.*30T>G | NP_001120679.1:n.*30T>G | |
| NM_014140.3:c.*30T>G , LRG_108t1:c.*30T>G | NP_054859.2:n.*30T>G | |
| XM_005246631.2:c.*30T>G | XP_005246688.1:n.*30T>G | |
| XM_005246632.1:c.*30T>G | XP_005246689.1:n.*30T>G | |
| XM_006712557.1:c.*30T>G | XP_006712620.1:n.*30T>G | |
| XM_005246632.2:c.*30T>G | XP_005246689.1:n.*30T>G | |
| XM_017004228.2:c.*30T>G | XP_016859717.1:n.*30T>G | |
| NM_001127207.2:c.*30T>G | NP_001120679.1:n.*30T>G | |
| NM_014140.4:c.*30T>G MANE Select | NP_054859.2:n.*30T>G |