Linked Data
ClinVar Variation Id:
502396
dbSNP Id:
rs1219288687
gnomAD v2:
2-179505260-A-C
gnomAD v4:
2-178640533-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178640533A>C , CM000664.2:g.178640533A>C | GRCh38 |
| NC_000002.11:g.179505260A>C , CM000664.1:g.179505260A>C | GRCh37 |
| NC_000002.10:g.179213505A>C | NCBI36 |
| NG_011618.3:g.195270T>G , LRG_391:g.195270T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33019+8T>G | ENSP00000343764.6:n.33019+8T>G | |
| ENST00000342175.11:c.14104+8T>G | ENSP00000340554.6:n.14104+8T>G | |
| ENST00000359218.10:c.13903+8T>G | ENSP00000352154.5:n.13903+8T>G | |
| ENST00000342175.10:c.14104+8T>G | ENSP00000340554.6:n.14104+8T>G | |
| ENST00000342992.10:c.33019+8T>G | ENSP00000343764.6:n.33019+8T>G | |
| ENST00000359218.9:c.13903+8T>G | ENSP00000352154.5:n.13903+8T>G | |
| ENST00000414766.5:c.2686+8T>G | ENSP00000401501.1:n.2686+8T>G | |
| ENST00000426232.5:c.686+8T>G | ||
| ENST00000446966.1:c.1084+8T>G | ENSP00000408004.1:n.1084+8T>G | |
| ENST00000460472.6:c.13528+8T>G | ENSP00000434586.1:n.13528+8T>G | |
| ENST00000589042.5:c.40723+8T>G MANE Select | ENSP00000467141.1:n.40723+8T>G | |
| ENST00000591111.5:c.35800+8T>G | ENSP00000465570.1:n.35800+8T>G | |
| ENST00000615779.4:c.35800+8T>G | ENSP00000483597.1:n.35800+8T>G | |
| NM_001256850.1:c.35800+8T>G | NP_001243779.1:n.35800+8T>G | |
| NM_001267550.2:c.40723+8T>G MANE Select | NP_001254479.2:n.40723+8T>G | |
| NM_003319.4:c.13528+8T>G | NP_003310.4:n.13528+8T>G | |
| NM_133378.4:c.33019+8T>G | NP_596869.4:n.33019+8T>G | |
| NM_133432.3:c.13903+8T>G | NP_597676.3:n.13903+8T>G | |
| NM_133437.4:c.14104+8T>G | NP_597681.4:n.14104+8T>G | |
| XM_011511729.1:c.39820+8T>G | XP_011510031.1:n.39820+8T>G | |
| XM_011511730.1:c.13714+8T>G | XP_011510032.1:n.13714+8T>G | |
| XM_011511731.1:c.13573+8T>G | XP_011510033.1:n.13573+8T>G | |
| XM_017004819.1:c.39616+8T>G | XP_016860308.1:n.39616+8T>G | |
| XM_017004820.1:c.35014+8T>G | XP_016860309.1:n.35014+8T>G | |
| XM_017004821.1:c.35011+8T>G | XP_016860310.1:n.35011+8T>G | |
| XM_017004822.1:c.32104+8T>G | XP_016860311.1:n.32104+8T>G | |
| XM_017004823.1:c.13669+8T>G | XP_016860312.1:n.13669+8T>G | |
| XM_024453094.1:c.35164+8T>G | XP_024308862.1:n.35164+8T>G | |
| XM_024453095.1:c.35161+8T>G | XP_024308863.1:n.35161+8T>G | |
| XM_024453096.1:c.34594+8T>G | XP_024308864.1:n.34594+8T>G | |
| XM_024453097.1:c.31936+8T>G | XP_024308865.1:n.31936+8T>G | |
| XM_024453098.1:c.31855+8T>G | XP_024308866.1:n.31855+8T>G | |
| XM_024453099.1:c.13669+8T>G | XP_024308867.1:n.13669+8T>G | |
| XM_024453100.1:c.3472+8T>G | XP_024308868.1:n.3472+8T>G |