Linked Data
ClinVar Variation Id:
467157
dbSNP Id:
rs1301078575
gnomAD v2:
2-179496031-C-T
gnomAD v4:
2-178631304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178631304C>T , CM000664.2:g.178631304C>T | GRCh38 |
| NC_000002.11:g.179496031C>T , CM000664.1:g.179496031C>T | GRCh37 |
| NC_000002.10:g.179204276C>T | NCBI36 |
| NG_011618.3:g.204499G>A , LRG_391:g.204499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36044-4G>A | ENSP00000343764.6:n.36044-4G>A | |
| ENST00000342175.11:c.17129-4G>A | ENSP00000340554.6:n.17129-4G>A | |
| ENST00000359218.10:c.16928-4G>A | ENSP00000352154.5:n.16928-4G>A | |
| ENST00000342175.10:c.17129-4G>A | ENSP00000340554.6:n.17129-4G>A | |
| ENST00000342992.10:c.36044-4G>A | ENSP00000343764.6:n.36044-4G>A | |
| ENST00000359218.9:c.16928-4G>A | ENSP00000352154.5:n.16928-4G>A | |
| ENST00000460472.6:c.16553-4G>A | ENSP00000434586.1:n.16553-4G>A | |
| ENST00000589042.5:c.43748-4G>A MANE Select | ENSP00000467141.1:n.43748-4G>A | |
| ENST00000591111.5:c.38825-4G>A | ENSP00000465570.1:n.38825-4G>A | |
| ENST00000615779.4:c.38825-4G>A | ENSP00000483597.1:n.38825-4G>A | |
| NM_001256850.1:c.38825-4G>A | NP_001243779.1:n.38825-4G>A | |
| NM_001267550.2:c.43748-4G>A MANE Select | NP_001254479.2:n.43748-4G>A | |
| NM_003319.4:c.16553-4G>A | NP_003310.4:n.16553-4G>A | |
| NM_133378.4:c.36044-4G>A | NP_596869.4:n.36044-4G>A | |
| NM_133432.3:c.16928-4G>A | NP_597676.3:n.16928-4G>A | |
| NM_133437.4:c.17129-4G>A | NP_597681.4:n.17129-4G>A | |
| XM_011511729.1:c.42845-4G>A | XP_011510031.1:n.42845-4G>A | |
| XM_011511730.1:c.16739-4G>A | XP_011510032.1:n.16739-4G>A | |
| XM_011511731.1:c.16598-4G>A | XP_011510033.1:n.16598-4G>A | |
| XM_017004819.1:c.42641-4G>A | XP_016860308.1:n.42641-4G>A | |
| XM_017004820.1:c.38039-4G>A | XP_016860309.1:n.38039-4G>A | |
| XM_017004821.1:c.38036-4G>A | XP_016860310.1:n.38036-4G>A | |
| XM_017004822.1:c.35078-4G>A | XP_016860311.1:n.35078-4G>A | |
| XM_017004823.1:c.16694-4G>A | XP_016860312.1:n.16694-4G>A | |
| XM_024453094.1:c.38189-4G>A | XP_024308862.1:n.38189-4G>A | |
| XM_024453095.1:c.38186-4G>A | XP_024308863.1:n.38186-4G>A | |
| XM_024453096.1:c.37619-4G>A | XP_024308864.1:n.37619-4G>A | |
| XM_024453097.1:c.34961-4G>A | XP_024308865.1:n.34961-4G>A | |
| XM_024453098.1:c.34880-4G>A | XP_024308866.1:n.34880-4G>A | |
| XM_024453099.1:c.16643-4G>A | XP_024308867.1:n.16643-4G>A | |
| XM_024453100.1:c.6497-4G>A | XP_024308868.1:n.6497-4G>A |