Linked Data
ClinVar Variation Id:
286449
dbSNP Id:
rs771927358
ExAC:
2:179496034 G / A
gnomAD v2:
2-179496034-G-A
gnomAD v3:
2-178631307-G-A
gnomAD v4:
2-178631307-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178631307G>A , CM000664.2:g.178631307G>A | GRCh38 |
| NC_000002.11:g.179496034G>A , CM000664.1:g.179496034G>A | GRCh37 |
| NC_000002.10:g.179204279G>A | NCBI36 |
| NG_011618.3:g.204496C>T , LRG_391:g.204496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36044-7C>T | ENSP00000343764.6:n.36044-7C>T | |
| ENST00000342175.11:c.17129-7C>T | ENSP00000340554.6:n.17129-7C>T | |
| ENST00000359218.10:c.16928-7C>T | ENSP00000352154.5:n.16928-7C>T | |
| ENST00000342175.10:c.17129-7C>T | ENSP00000340554.6:n.17129-7C>T | |
| ENST00000342992.10:c.36044-7C>T | ENSP00000343764.6:n.36044-7C>T | |
| ENST00000359218.9:c.16928-7C>T | ENSP00000352154.5:n.16928-7C>T | |
| ENST00000460472.6:c.16553-7C>T | ENSP00000434586.1:n.16553-7C>T | |
| ENST00000589042.5:c.43748-7C>T MANE Select | ENSP00000467141.1:n.43748-7C>T | |
| ENST00000591111.5:c.38825-7C>T | ENSP00000465570.1:n.38825-7C>T | |
| ENST00000615779.4:c.38825-7C>T | ENSP00000483597.1:n.38825-7C>T | |
| NM_001256850.1:c.38825-7C>T | NP_001243779.1:n.38825-7C>T | |
| NM_001267550.2:c.43748-7C>T MANE Select | NP_001254479.2:n.43748-7C>T | |
| NM_003319.4:c.16553-7C>T | NP_003310.4:n.16553-7C>T | |
| NM_133378.4:c.36044-7C>T | NP_596869.4:n.36044-7C>T | |
| NM_133432.3:c.16928-7C>T | NP_597676.3:n.16928-7C>T | |
| NM_133437.4:c.17129-7C>T | NP_597681.4:n.17129-7C>T | |
| XM_011511729.1:c.42845-7C>T | XP_011510031.1:n.42845-7C>T | |
| XM_011511730.1:c.16739-7C>T | XP_011510032.1:n.16739-7C>T | |
| XM_011511731.1:c.16598-7C>T | XP_011510033.1:n.16598-7C>T | |
| XM_017004819.1:c.42641-7C>T | XP_016860308.1:n.42641-7C>T | |
| XM_017004820.1:c.38039-7C>T | XP_016860309.1:n.38039-7C>T | |
| XM_017004821.1:c.38036-7C>T | XP_016860310.1:n.38036-7C>T | |
| XM_017004822.1:c.35078-7C>T | XP_016860311.1:n.35078-7C>T | |
| XM_017004823.1:c.16694-7C>T | XP_016860312.1:n.16694-7C>T | |
| XM_024453094.1:c.38189-7C>T | XP_024308862.1:n.38189-7C>T | |
| XM_024453095.1:c.38186-7C>T | XP_024308863.1:n.38186-7C>T | |
| XM_024453096.1:c.37619-7C>T | XP_024308864.1:n.37619-7C>T | |
| XM_024453097.1:c.34961-7C>T | XP_024308865.1:n.34961-7C>T | |
| XM_024453098.1:c.34880-7C>T | XP_024308866.1:n.34880-7C>T | |
| XM_024453099.1:c.16643-7C>T | XP_024308867.1:n.16643-7C>T | |
| XM_024453100.1:c.6497-7C>T | XP_024308868.1:n.6497-7C>T |