Linked Data
ClinVar Variation Id:
1231211
ClinVar RCV Id:
RCV001609867
dbSNP Id:
rs12050161
gnomAD v2:
14-69360631-T-C
gnomAD v3:
14-68893914-T-C
gnomAD v4:
14-68893914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68893914T>C , CM000676.2:g.68893914T>C | GRCh38 |
| NC_000014.8:g.69360631T>C , CM000676.1:g.69360631T>C | GRCh37 |
| NC_000014.7:g.68430384T>C | NCBI36 |
| NG_029480.1:g.90453A>G , LRG_886:g.90453A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554508.6:c.568-167A>G | ENSP00000507578.1:n.568-167A>G | |
| ENST00000682130.1:n.1051-167A>G | ||
| ENST00000682291.1:c.763-167A>G | ENSP00000507093.1:n.763-167A>G | |
| ENST00000682298.1:n.1136-167A>G | ||
| ENST00000682331.1:c.763-167A>G | ENSP00000508329.1:n.763-167A>G | |
| ENST00000682378.1:n.1051-167A>G | ||
| ENST00000682381.1:n.1051-167A>G | ||
| ENST00000682522.1:n.652-167A>G | ||
| ENST00000682559.1:c.*216-167A>G | ENSP00000507271.1:n.*216-167A>G | |
| ENST00000683069.1:n.963-167A>G | ||
| ENST00000683198.1:c.763-167A>G | ENSP00000507889.1:n.763-167A>G | |
| ENST00000683225.1:c.568-167A>G | ENSP00000506977.1:n.568-167A>G | |
| ENST00000683267.1:c.*41-167A>G | ENSP00000508356.1:n.*41-167A>G | |
| ENST00000683342.1:c.763-167A>G | ENSP00000508301.1:n.763-167A>G | |
| ENST00000683780.1:n.1609-167A>G | ||
| ENST00000684146.1:n.1051-167A>G | ||
| ENST00000684182.1:c.568-167A>G | ENSP00000508177.1:n.568-167A>G | |
| ENST00000684340.1:n.1051-167A>G | ||
| ENST00000684598.1:c.763-167A>G | ENSP00000507785.1:n.763-167A>G | |
| ENST00000684638.1:c.*41-167A>G | ENSP00000507609.1:n.*41-167A>G | |
| ENST00000684639.1:c.643-167A>G | ENSP00000507653.1:n.643-167A>G | |
| ENST00000684713.1:c.763-1631A>G | ENSP00000507155.1:n.763-1631A>G | |
| ENST00000394419.9:c.763-167A>G MANE Select | ENSP00000377941.4:n.763-167A>G | |
| ENST00000679147.1:c.763-167A>G | ENSP00000504355.1:n.763-167A>G | |
| ENST00000193403.10:c.763-167A>G | ENSP00000193403.6:n.763-167A>G | |
| ENST00000376839.7:c.568-167A>G | ENSP00000366035.3:n.568-167A>G | |
| ENST00000394419.8:c.763-167A>G | ENSP00000377941.4:n.763-167A>G | |
| ENST00000438964.6:c.763-167A>G | ENSP00000414272.2:n.763-167A>G | |
| ENST00000538545.6:c.763-167A>G | ENSP00000439828.2:n.763-167A>G | |
| ENST00000554508.5:n.541-167A>G | ||
| ENST00000555616.5:c.568-167A>G | ENSP00000450903.1:n.568-167A>G | |
| ENST00000556433.5:c.700-167A>G | ENSP00000450764.1:n.700-167A>G | |
| NM_001102.3:c.763-167A>G | NP_001093.1:n.763-167A>G | |
| NM_001130004.1:c.763-167A>G , LRG_886t1:c.763-167A>G | NP_001123476.1:n.763-167A>G | |
| NM_001130005.1:c.763-167A>G | NP_001123477.1:n.763-167A>G | |
| XM_011537265.1:c.850-167A>G | XP_011535567.1:n.850-167A>G | |
| XM_011537266.1:c.850-167A>G | XP_011535568.1:n.850-167A>G | |
| XM_011537267.1:c.850-167A>G | XP_011535569.1:n.850-167A>G | |
| XM_011537268.1:c.850-167A>G | XP_011535570.1:n.850-167A>G | |
| XM_011537269.1:c.763-167A>G | XP_011535571.1:n.763-167A>G | |
| XM_011537270.1:c.700-167A>G | XP_011535572.1:n.700-167A>G | |
| XM_011537271.1:c.700-167A>G | XP_011535573.1:n.700-167A>G | |
| XM_011537265.2:c.850-167A>G | XP_011535567.1:n.850-167A>G | |
| XM_011537266.3:c.850-167A>G | XP_011535568.1:n.850-167A>G | |
| XM_011537267.3:c.850-167A>G | XP_011535569.1:n.850-167A>G | |
| XM_011537268.3:c.850-167A>G | XP_011535570.1:n.850-167A>G | |
| XM_017021720.1:c.850-167A>G | XP_016877209.1:n.850-167A>G | |
| XM_017021721.2:c.850-167A>G | XP_016877210.1:n.850-167A>G | |
| XM_017021722.2:c.763-167A>G | XP_016877211.1:n.763-167A>G | |
| XM_017021723.2:c.763-167A>G | XP_016877212.1:n.763-167A>G | |
| XM_017021725.1:c.700-167A>G | XP_016877214.1:n.700-167A>G | |
| XM_017021726.2:c.700-167A>G | XP_016877215.1:n.700-167A>G | |
| XM_017021727.2:c.763-167A>G | XP_016877216.1:n.763-167A>G | |
| XM_017021728.2:c.700-167A>G | XP_016877217.1:n.700-167A>G | |
| NM_001102.4:c.763-167A>G | NP_001093.1:n.763-167A>G | |
| NM_001130005.2:c.763-167A>G | NP_001123477.1:n.763-167A>G | |
| NM_001130004.2:c.763-167A>G MANE Select | NP_001123476.1:n.763-167A>G |