Linked Data
ClinVar Variation Id:
2137084
ClinVar RCV Id:
RCV003062374
dbSNP Id:
rs2076582483
gnomAD v3:
2-178711051-A-G
gnomAD v4:
2-178711051-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178711051A>G , CM000664.2:g.178711051A>G | GRCh38 |
| NC_000002.11:g.179575778A>G , CM000664.1:g.179575778A>G | GRCh37 |
| NC_000002.10:g.179284023A>G | NCBI36 |
| NG_011618.3:g.124752T>C , LRG_391:g.124752T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.24442+11T>C | ENSP00000343764.6:n.24442+11T>C | |
| ENST00000342175.11:c.13858+27031T>C | ENSP00000340554.6:n.13858+27031T>C | |
| ENST00000359218.10:c.13657+27031T>C | ENSP00000352154.5:n.13657+27031T>C | |
| ENST00000342175.10:c.13858+27031T>C | ENSP00000340554.6:n.13858+27031T>C | |
| ENST00000342992.10:c.24442+11T>C | ENSP00000343764.6:n.24442+11T>C | |
| ENST00000359218.9:c.13657+27031T>C | ENSP00000352154.5:n.13657+27031T>C | |
| ENST00000460472.6:c.13282+27031T>C | ENSP00000434586.1:n.13282+27031T>C | |
| ENST00000589042.5:c.28174+11T>C MANE Select | ENSP00000467141.1:n.28174+11T>C | |
| ENST00000591111.5:c.27223+11T>C | ENSP00000465570.1:n.27223+11T>C | |
| ENST00000615779.4:c.27223+11T>C | ENSP00000483597.1:n.27223+11T>C | |
| NM_001256850.1:c.27223+11T>C | NP_001243779.1:n.27223+11T>C | |
| NM_001267550.2:c.28174+11T>C MANE Select | NP_001254479.2:n.28174+11T>C | |
| NM_003319.4:c.13282+27031T>C | NP_003310.4:n.13282+27031T>C | |
| NM_133378.4:c.24442+11T>C | NP_596869.4:n.24442+11T>C | |
| NM_133432.3:c.13657+27031T>C | NP_597676.3:n.13657+27031T>C | |
| NM_133437.4:c.13858+27031T>C | NP_597681.4:n.13858+27031T>C | |
| XM_011511729.1:c.27271+11T>C | XP_011510031.1:n.27271+11T>C | |
| XM_011511730.1:c.13468+27031T>C | XP_011510032.1:n.13468+27031T>C | |
| XM_011511731.1:c.13327+27031T>C | XP_011510033.1:n.13327+27031T>C | |
| XM_017004819.1:c.27226+11T>C | XP_016860308.1:n.27226+11T>C | |
| XM_017004820.1:c.24445+11T>C | XP_016860309.1:n.24445+11T>C | |
| XM_017004821.1:c.24442+11T>C | XP_016860310.1:n.24442+11T>C | |
| XM_017004822.1:c.27226+11T>C | XP_016860311.1:n.27226+11T>C | |
| XM_017004823.1:c.13423+27031T>C | XP_016860312.1:n.13423+27031T>C | |
| XM_024453094.1:c.27226+11T>C | XP_024308862.1:n.27226+11T>C | |
| XM_024453095.1:c.27226+11T>C | XP_024308863.1:n.27226+11T>C | |
| XM_024453096.1:c.27226+11T>C | XP_024308864.1:n.27226+11T>C | |
| XM_024453097.1:c.27226+11T>C | XP_024308865.1:n.27226+11T>C | |
| XM_024453098.1:c.27226+11T>C | XP_024308866.1:n.27226+11T>C | |
| XM_024453099.1:c.13423+27031T>C | XP_024308867.1:n.13423+27031T>C |