Linked Data
ClinVar Variation Id:
191968
dbSNP Id:
rs181902304
ExAC:
2:179498247 T / C
gnomAD v2:
2-179498247-T-C
gnomAD v3:
2-178633520-T-C
gnomAD v4:
2-178633520-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633520T>C , CM000664.2:g.178633520T>C | GRCh38 |
| NC_000002.11:g.179498247T>C , CM000664.1:g.179498247T>C | GRCh37 |
| NC_000002.10:g.179206492T>C | NCBI36 |
| NG_011618.3:g.202283A>G , LRG_391:g.202283A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35135A>G | ENSP00000343764.6:p.Asp11712Gly | |
| ENST00000342175.11:c.16220A>G | ENSP00000340554.6:p.Asp5407Gly | |
| ENST00000359218.10:c.16019A>G | ENSP00000352154.5:p.Asp5340Gly | |
| ENST00000342175.10:c.16220A>G | ENSP00000340554.6:p.Asp5407Gly | |
| ENST00000342992.10:c.35135A>G | ENSP00000343764.6:p.Asp11712Gly | |
| ENST00000359218.9:c.16019A>G | ENSP00000352154.5:p.Asp5340Gly | |
| ENST00000460472.6:c.15644A>G | ENSP00000434586.1:p.Asp5215Gly | |
| ENST00000589042.5:c.42839A>G MANE Select | ENSP00000467141.1:p.Asp14280Gly | |
| ENST00000591111.5:c.37916A>G | ENSP00000465570.1:p.Asp12639Gly | |
| ENST00000615779.4:c.37916A>G | ENSP00000483597.1:p.Asp12639Gly | |
| NM_001256850.1:c.37916A>G | NP_001243779.1:p.Asp12639Gly | |
| NM_001267550.2:c.42839A>G MANE Select | NP_001254479.2:p.Asp14280Gly | |
| NM_003319.4:c.15644A>G | NP_003310.4:p.Asp5215Gly | |
| NM_133378.4:c.35135A>G | NP_596869.4:p.Asp11712Gly | |
| NM_133432.3:c.16019A>G | NP_597676.3:p.Asp5340Gly | |
| NM_133437.4:c.16220A>G | NP_597681.4:p.Asp5407Gly | |
| XM_011511729.1:c.41936A>G | XP_011510031.1:p.Asp13979Gly | |
| XM_011511730.1:c.15830A>G | XP_011510032.1:p.Asp5277Gly | |
| XM_011511731.1:c.15689A>G | XP_011510033.1:p.Asp5230Gly | |
| XM_017004819.1:c.41732A>G | XP_016860308.1:p.Asp13911Gly | |
| XM_017004820.1:c.37130A>G | XP_016860309.1:p.Asp12377Gly | |
| XM_017004821.1:c.37127A>G | XP_016860310.1:p.Asp12376Gly | |
| XM_017004822.1:c.34169A>G | XP_016860311.1:p.Asp11390Gly | |
| XM_017004823.1:c.15785A>G | XP_016860312.1:p.Asp5262Gly | |
| XM_024453094.1:c.37280A>G | XP_024308862.1:p.Asp12427Gly | |
| XM_024453095.1:c.37277A>G | XP_024308863.1:p.Asp12426Gly | |
| XM_024453096.1:c.36710A>G | XP_024308864.1:p.Asp12237Gly | |
| XM_024453097.1:c.34052A>G | XP_024308865.1:p.Asp11351Gly | |
| XM_024453098.1:c.33971A>G | XP_024308866.1:p.Asp11324Gly | |
| XM_024453099.1:c.15734A>G | XP_024308867.1:p.Asp5245Gly | |
| XM_024453100.1:c.5588A>G | XP_024308868.1:p.Asp1863Gly |