Linked Data
ClinVar Variation Id:
202267
dbSNP Id:
rs794729234
gnomAD v2:
2-179495525-C-A
gnomAD v3:
2-178630798-C-A
gnomAD v4:
2-178630798-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630798C>A , CM000664.2:g.178630798C>A | GRCh38 |
| NC_000002.11:g.179495525C>A , CM000664.1:g.179495525C>A | GRCh37 |
| NC_000002.10:g.179203770C>A | NCBI36 |
| NG_011618.3:g.205005G>T , LRG_391:g.205005G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36450+6G>T | ENSP00000343764.6:n.36450+6G>T | |
| ENST00000342175.11:c.17535+6G>T | ENSP00000340554.6:n.17535+6G>T | |
| ENST00000359218.10:c.17334+6G>T | ENSP00000352154.5:n.17334+6G>T | |
| ENST00000342175.10:c.17535+6G>T | ENSP00000340554.6:n.17535+6G>T | |
| ENST00000342992.10:c.36450+6G>T | ENSP00000343764.6:n.36450+6G>T | |
| ENST00000359218.9:c.17334+6G>T | ENSP00000352154.5:n.17334+6G>T | |
| ENST00000460472.6:c.16959+6G>T | ENSP00000434586.1:n.16959+6G>T | |
| ENST00000589042.5:c.44154+6G>T MANE Select | ENSP00000467141.1:n.44154+6G>T | |
| ENST00000591111.5:c.39231+6G>T | ENSP00000465570.1:n.39231+6G>T | |
| ENST00000615779.4:c.39231+6G>T | ENSP00000483597.1:n.39231+6G>T | |
| NM_001256850.1:c.39231+6G>T | NP_001243779.1:n.39231+6G>T | |
| NM_001267550.2:c.44154+6G>T MANE Select | NP_001254479.2:n.44154+6G>T | |
| NM_003319.4:c.16959+6G>T | NP_003310.4:n.16959+6G>T | |
| NM_133378.4:c.36450+6G>T | NP_596869.4:n.36450+6G>T | |
| NM_133432.3:c.17334+6G>T | NP_597676.3:n.17334+6G>T | |
| NM_133437.4:c.17535+6G>T | NP_597681.4:n.17535+6G>T | |
| XM_011511729.1:c.43251+6G>T | XP_011510031.1:n.43251+6G>T | |
| XM_011511730.1:c.17145+6G>T | XP_011510032.1:n.17145+6G>T | |
| XM_011511731.1:c.17004+6G>T | XP_011510033.1:n.17004+6G>T | |
| XM_017004819.1:c.43047+6G>T | XP_016860308.1:n.43047+6G>T | |
| XM_017004820.1:c.38445+6G>T | XP_016860309.1:n.38445+6G>T | |
| XM_017004821.1:c.38442+6G>T | XP_016860310.1:n.38442+6G>T | |
| XM_017004822.1:c.35484+6G>T | XP_016860311.1:n.35484+6G>T | |
| XM_017004823.1:c.17100+6G>T | XP_016860312.1:n.17100+6G>T | |
| XM_024453094.1:c.38595+6G>T | XP_024308862.1:n.38595+6G>T | |
| XM_024453095.1:c.38592+6G>T | XP_024308863.1:n.38592+6G>T | |
| XM_024453096.1:c.38025+6G>T | XP_024308864.1:n.38025+6G>T | |
| XM_024453097.1:c.35367+6G>T | XP_024308865.1:n.35367+6G>T | |
| XM_024453098.1:c.35286+6G>T | XP_024308866.1:n.35286+6G>T | |
| XM_024453099.1:c.17049+6G>T | XP_024308867.1:n.17049+6G>T | |
| XM_024453100.1:c.6903+6G>T | XP_024308868.1:n.6903+6G>T |