Linked Data
ClinVar Variation Id:
355039
dbSNP Id:
rs201293291
ExAC:
6:110083284 C / G
gnomAD v2:
6-110083284-C-G
gnomAD v3:
6-109762081-C-G
gnomAD v4:
6-109762081-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109762081C>G , CM000668.2:g.109762081C>G | GRCh38 |
| NC_000006.11:g.110083284C>G , CM000668.1:g.110083284C>G | GRCh37 |
| NC_000006.10:g.110189977C>G | NCBI36 |
| NG_007977.1:g.75861C>G , LRG_241:g.75861C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.1272-10C>G MANE Select | ENSP00000230124.4:n.1272-10C>G | |
| ENST00000415980.2:c.-223-10C>G | ENSP00000405660.2:n.-223-10C>G | |
| ENST00000674532.1:n.4468-10C>G | ||
| ENST00000674557.1:c.*704-10C>G | ENSP00000501608.1:n.*704-10C>G | |
| ENST00000674569.1:c.*391-10C>G | ENSP00000502769.1:n.*391-10C>G | |
| ENST00000674571.1:c.*391-10C>G | ENSP00000501633.1:n.*391-10C>G | |
| ENST00000674575.1:c.*391-10C>G | ENSP00000502276.1:n.*391-10C>G | |
| ENST00000674641.1:c.927-10C>G | ENSP00000501609.1:n.927-10C>G | |
| ENST00000674644.1:c.342-10C>G | ENSP00000502201.1:n.342-10C>G | |
| ENST00000674649.1:c.*965-10C>G | ENSP00000501669.1:n.*965-10C>G | |
| ENST00000674657.1:c.*704-10C>G | ENSP00000502314.1:n.*704-10C>G | |
| ENST00000674744.1:c.1266-10C>G | ENSP00000501661.1:n.1266-10C>G | |
| ENST00000674778.1:c.*391-10C>G | ENSP00000502742.1:n.*391-10C>G | |
| ENST00000674783.1:c.*187-10C>G | ENSP00000502755.1:n.*187-10C>G | |
| ENST00000674830.1:n.1243-10C>G | ||
| ENST00000674884.1:c.1290-10C>G | ENSP00000502668.1:n.1290-10C>G | |
| ENST00000674930.1:c.*397-10C>G | ENSP00000502657.1:n.*397-10C>G | |
| ENST00000674933.1:c.1041-10C>G | ENSP00000502376.1:n.1041-10C>G | |
| ENST00000674956.1:c.*486-10C>G | ENSP00000501904.1:n.*486-10C>G | |
| ENST00000675004.1:c.*1224-10C>G | ENSP00000501868.1:n.*1224-10C>G | |
| ENST00000675009.1:c.*656-10C>G | ENSP00000502098.1:n.*656-10C>G | |
| ENST00000675096.1:c.1272-10C>G | ENSP00000502116.1:n.1272-10C>G | |
| ENST00000675122.1:c.1272-10C>G | ENSP00000501810.1:n.1272-10C>G | |
| ENST00000675153.1:c.1138-10C>G | ENSP00000501682.1:n.1138-10C>G | |
| ENST00000675272.1:n.5570-10C>G | ||
| ENST00000675284.1:c.1272-10C>G | ENSP00000502758.1:n.1272-10C>G | |
| ENST00000675311.1:c.*474-10C>G | ENSP00000501961.1:n.*474-10C>G | |
| ENST00000675426.1:c.*340-10C>G | ENSP00000501819.1:n.*340-10C>G | |
| ENST00000675516.1:n.503-10C>G | ||
| ENST00000675523.1:c.1041-10C>G | ENSP00000502384.1:n.1041-10C>G | |
| ENST00000675552.1:c.*391-10C>G | ENSP00000502197.1:n.*391-10C>G | |
| ENST00000675681.1:c.1272-10C>G | ENSP00000502705.1:n.1272-10C>G | |
| ENST00000675714.1:c.1272-10C>G | ENSP00000502561.1:n.1272-10C>G | |
| ENST00000675726.1:c.1272-10C>G | ENSP00000502452.1:n.1272-10C>G | |
| ENST00000675772.1:c.1272-10C>G | ENSP00000501678.1:n.1272-10C>G | |
| ENST00000675831.1:c.879-10C>G | ENSP00000502382.1:n.879-10C>G | |
| ENST00000675847.1:n.1396-10C>G | ||
| ENST00000675887.1:c.*875-10C>G | ENSP00000502123.1:n.*875-10C>G | |
| ENST00000675973.1:c.1143-10C>G | ENSP00000502407.1:n.1143-10C>G | |
| ENST00000675991.1:c.*391-10C>G | ENSP00000502162.1:n.*391-10C>G | |
| ENST00000675994.1:c.*391-10C>G | ENSP00000502419.1:n.*391-10C>G | |
| ENST00000676021.1:c.1138-10C>G | ENSP00000502746.1:n.1138-10C>G | |
| ENST00000676037.1:c.1272-10C>G | ENSP00000502181.1:n.1272-10C>G | |
| ENST00000676136.1:n.1412-10C>G | ||
| ENST00000676442.1:c.1143-10C>G | ENSP00000502595.1:n.1143-10C>G | |
| ENST00000230124.7:c.1272-10C>G | ENSP00000230124.3:n.1272-10C>G | |
| NM_014845.5:c.1272-10C>G , LRG_241t1:c.1272-10C>G | NP_055660.1:n.1272-10C>G | |
| XM_011536281.1:c.1209-10C>G | XP_011534583.1:n.1209-10C>G | |
| XM_011536281.3:c.1209-10C>G | XP_011534583.1:n.1209-10C>G | |
| XM_017011591.2:c.1272-10C>G | XP_016867080.1:n.1272-10C>G | |
| XM_017011592.1:c.723-10C>G | XP_016867081.1:n.723-10C>G | |
| XM_017011593.2:c.342-10C>G | XP_016867082.1:n.342-10C>G | |
| NM_014845.6:c.1272-10C>G MANE Select | NP_055660.1:n.1272-10C>G |