Linked Data
ClinVar Variation Id:
290638
dbSNP Id:
rs772004291
ExAC:
2:179499086 C / T
gnomAD v2:
2-179499086-C-T
gnomAD v3:
2-178634359-C-T
gnomAD v4:
2-178634359-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178634359C>T , CM000664.2:g.178634359C>T | GRCh38 |
| NC_000002.11:g.179499086C>T , CM000664.1:g.179499086C>T | GRCh37 |
| NC_000002.10:g.179207331C>T | NCBI36 |
| NG_011618.3:g.201444G>A , LRG_391:g.201444G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34711+7G>A | ENSP00000343764.6:n.34711+7G>A | |
| ENST00000342175.11:c.15796+7G>A | ENSP00000340554.6:n.15796+7G>A | |
| ENST00000359218.10:c.15595+7G>A | ENSP00000352154.5:n.15595+7G>A | |
| ENST00000342175.10:c.15796+7G>A | ENSP00000340554.6:n.15796+7G>A | |
| ENST00000342992.10:c.34711+7G>A | ENSP00000343764.6:n.34711+7G>A | |
| ENST00000359218.9:c.15595+7G>A | ENSP00000352154.5:n.15595+7G>A | |
| ENST00000460472.6:c.15220+7G>A | ENSP00000434586.1:n.15220+7G>A | |
| ENST00000589042.5:c.42415+7G>A MANE Select | ENSP00000467141.1:n.42415+7G>A | |
| ENST00000591111.5:c.37492+7G>A | ENSP00000465570.1:n.37492+7G>A | |
| ENST00000615779.4:c.37492+7G>A | ENSP00000483597.1:n.37492+7G>A | |
| NM_001256850.1:c.37492+7G>A | NP_001243779.1:n.37492+7G>A | |
| NM_001267550.2:c.42415+7G>A MANE Select | NP_001254479.2:n.42415+7G>A | |
| NM_003319.4:c.15220+7G>A | NP_003310.4:n.15220+7G>A | |
| NM_133378.4:c.34711+7G>A | NP_596869.4:n.34711+7G>A | |
| NM_133432.3:c.15595+7G>A | NP_597676.3:n.15595+7G>A | |
| NM_133437.4:c.15796+7G>A | NP_597681.4:n.15796+7G>A | |
| XM_011511729.1:c.41512+7G>A | XP_011510031.1:n.41512+7G>A | |
| XM_011511730.1:c.15406+7G>A | XP_011510032.1:n.15406+7G>A | |
| XM_011511731.1:c.15265+7G>A | XP_011510033.1:n.15265+7G>A | |
| XM_017004819.1:c.41308+7G>A | XP_016860308.1:n.41308+7G>A | |
| XM_017004820.1:c.36706+7G>A | XP_016860309.1:n.36706+7G>A | |
| XM_017004821.1:c.36703+7G>A | XP_016860310.1:n.36703+7G>A | |
| XM_017004822.1:c.33745+7G>A | XP_016860311.1:n.33745+7G>A | |
| XM_017004823.1:c.15361+7G>A | XP_016860312.1:n.15361+7G>A | |
| XM_024453094.1:c.36856+7G>A | XP_024308862.1:n.36856+7G>A | |
| XM_024453095.1:c.36853+7G>A | XP_024308863.1:n.36853+7G>A | |
| XM_024453096.1:c.36286+7G>A | XP_024308864.1:n.36286+7G>A | |
| XM_024453097.1:c.33628+7G>A | XP_024308865.1:n.33628+7G>A | |
| XM_024453098.1:c.33547+7G>A | XP_024308866.1:n.33547+7G>A | |
| XM_024453099.1:c.15310+7G>A | XP_024308867.1:n.15310+7G>A | |
| XM_024453100.1:c.5164+7G>A | XP_024308868.1:n.5164+7G>A |