Linked Data
ClinVar Variation Id:
223256
ClinVar RCV Id:
RCV000456920
RCV000477783
RCV000725594
RCV000770044
RCV004529009
RCV000209704
RCV000221188
RCV001132686
RCV001132687
RCV002381720
RCV003992234
dbSNP Id:
rs368219776
ExAC:
2:179506963 C / T
gnomAD v2:
2-179506963-C-T
gnomAD v3:
2-178642236-C-T
gnomAD v4:
2-178642236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178642236C>T , CM000664.2:g.178642236C>T | GRCh38 |
| NC_000002.11:g.179506963C>T , CM000664.1:g.179506963C>T | GRCh37 |
| NC_000002.10:g.179215208C>T | NCBI36 |
| NG_011618.3:g.193567G>A , LRG_391:g.193567G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32854+1G>A | ENSP00000343764.6:n.32854+1G>A | |
| ENST00000342175.11:c.13939+1G>A | ENSP00000340554.6:n.13939+1G>A | |
| ENST00000359218.10:c.13738+1G>A | ENSP00000352154.5:n.13738+1G>A | |
| ENST00000342175.10:c.13939+1G>A | ENSP00000340554.6:n.13939+1G>A | |
| ENST00000342992.10:c.32854+1G>A | ENSP00000343764.6:n.32854+1G>A | |
| ENST00000359218.9:c.13738+1G>A | ENSP00000352154.5:n.13738+1G>A | |
| ENST00000414766.5:c.2521+1G>A | ENSP00000401501.1:n.2521+1G>A | |
| ENST00000426232.5:c.597-1606G>A | ||
| ENST00000446966.1:c.995-1606G>A | ENSP00000408004.1:n.995-1606G>A | |
| ENST00000460472.6:c.13363+1G>A | ENSP00000434586.1:n.13363+1G>A | |
| ENST00000589042.5:c.40558+1G>A MANE Select | ENSP00000467141.1:n.40558+1G>A | |
| ENST00000591111.5:c.35635+1G>A | ENSP00000465570.1:n.35635+1G>A | |
| ENST00000615779.4:c.35635+1G>A | ENSP00000483597.1:n.35635+1G>A | |
| NM_001256850.1:c.35635+1G>A | NP_001243779.1:n.35635+1G>A | |
| NM_001267550.2:c.40558+1G>A MANE Select | NP_001254479.2:n.40558+1G>A | |
| NM_003319.4:c.13363+1G>A | NP_003310.4:n.13363+1G>A | |
| NM_133378.4:c.32854+1G>A | NP_596869.4:n.32854+1G>A | |
| NM_133432.3:c.13738+1G>A | NP_597676.3:n.13738+1G>A | |
| NM_133437.4:c.13939+1G>A | NP_597681.4:n.13939+1G>A | |
| XM_011511729.1:c.39655+1G>A | XP_011510031.1:n.39655+1G>A | |
| XM_011511730.1:c.13549+1G>A | XP_011510032.1:n.13549+1G>A | |
| XM_011511731.1:c.13408+1G>A | XP_011510033.1:n.13408+1G>A | |
| XM_017004819.1:c.39451+1G>A | XP_016860308.1:n.39451+1G>A | |
| XM_017004820.1:c.34849+1G>A | XP_016860309.1:n.34849+1G>A | |
| XM_017004821.1:c.34846+1G>A | XP_016860310.1:n.34846+1G>A | |
| XM_017004822.1:c.31939+1G>A | XP_016860311.1:n.31939+1G>A | |
| XM_017004823.1:c.13504+1G>A | XP_016860312.1:n.13504+1G>A | |
| XM_024453094.1:c.34999+1G>A | XP_024308862.1:n.34999+1G>A | |
| XM_024453095.1:c.34996+1G>A | XP_024308863.1:n.34996+1G>A | |
| XM_024453096.1:c.34429+1G>A | XP_024308864.1:n.34429+1G>A | |
| XM_024453097.1:c.31771+1G>A | XP_024308865.1:n.31771+1G>A | |
| XM_024453098.1:c.31690+1G>A | XP_024308866.1:n.31690+1G>A | |
| XM_024453099.1:c.13504+1G>A | XP_024308867.1:n.13504+1G>A | |
| XM_024453100.1:c.3307+1G>A | XP_024308868.1:n.3307+1G>A |