Linked Data
ClinVar Variation Id:
202368
dbSNP Id:
rs749705939
ExAC:
2:179487495 C / T
gnomAD v2:
2-179487495-C-T
gnomAD v3:
2-178622768-C-T
gnomAD v4:
2-178622768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178622768C>T , CM000664.2:g.178622768C>T | GRCh38 |
| NC_000002.11:g.179487495C>T , CM000664.1:g.179487495C>T | GRCh37 |
| NC_000002.10:g.179195740C>T | NCBI36 |
| NG_011618.3:g.213035G>A , LRG_391:g.213035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37112-1G>A | ENSP00000343764.6:n.37112-1G>A | |
| ENST00000342175.11:c.18197-1G>A | ENSP00000340554.6:n.18197-1G>A | |
| ENST00000359218.10:c.17996-1G>A | ENSP00000352154.5:n.17996-1G>A | |
| ENST00000342175.10:c.18197-1G>A | ENSP00000340554.6:n.18197-1G>A | |
| ENST00000342992.10:c.37112-1G>A | ENSP00000343764.6:n.37112-1G>A | |
| ENST00000359218.9:c.17996-1G>A | ENSP00000352154.5:n.17996-1G>A | |
| ENST00000460472.6:c.17621-1G>A | ENSP00000434586.1:n.17621-1G>A | |
| ENST00000589042.5:c.44816-1G>A MANE Select | ENSP00000467141.1:n.44816-1G>A | |
| ENST00000591111.5:c.39893-1G>A | ENSP00000465570.1:n.39893-1G>A | |
| ENST00000615779.4:c.39893-1G>A | ENSP00000483597.1:n.39893-1G>A | |
| NM_001256850.1:c.39893-1G>A | NP_001243779.1:n.39893-1G>A | |
| NM_001267550.2:c.44816-1G>A MANE Select | NP_001254479.2:n.44816-1G>A | |
| NM_003319.4:c.17621-1G>A | NP_003310.4:n.17621-1G>A | |
| NM_133378.4:c.37112-1G>A | NP_596869.4:n.37112-1G>A | |
| NM_133432.3:c.17996-1G>A | NP_597676.3:n.17996-1G>A | |
| NM_133437.4:c.18197-1G>A | NP_597681.4:n.18197-1G>A | |
| XM_011511729.1:c.43913-1G>A | XP_011510031.1:n.43913-1G>A | |
| XM_011511730.1:c.17807-1G>A | XP_011510032.1:n.17807-1G>A | |
| XM_011511731.1:c.17666-1G>A | XP_011510033.1:n.17666-1G>A | |
| XM_017004819.1:c.43709-1G>A | XP_016860308.1:n.43709-1G>A | |
| XM_017004820.1:c.39107-1G>A | XP_016860309.1:n.39107-1G>A | |
| XM_017004821.1:c.39104-1G>A | XP_016860310.1:n.39104-1G>A | |
| XM_017004822.1:c.36146-1G>A | XP_016860311.1:n.36146-1G>A | |
| XM_017004823.1:c.17762-1G>A | XP_016860312.1:n.17762-1G>A | |
| XM_024453094.1:c.39257-1G>A | XP_024308862.1:n.39257-1G>A | |
| XM_024453095.1:c.39254-1G>A | XP_024308863.1:n.39254-1G>A | |
| XM_024453096.1:c.38687-1G>A | XP_024308864.1:n.38687-1G>A | |
| XM_024453097.1:c.36029-1G>A | XP_024308865.1:n.36029-1G>A | |
| XM_024453098.1:c.35948-1G>A | XP_024308866.1:n.35948-1G>A | |
| XM_024453099.1:c.17711-1G>A | XP_024308867.1:n.17711-1G>A | |
| XM_024453100.1:c.7565-1G>A | XP_024308868.1:n.7565-1G>A |