Linked Data
ClinVar Variation Id:
130666
dbSNP Id:
rs587780488
gnomAD v2:
2-179506964-C-G
gnomAD v4:
2-178642237-C-G
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178642237C>G , CM000664.2:g.178642237C>G | GRCh38 |
| NC_000002.11:g.179506964C>G , CM000664.1:g.179506964C>G | GRCh37 |
| NC_000002.10:g.179215209C>G | NCBI36 |
| NG_011618.3:g.193566G>C , LRG_391:g.193566G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32854G>C | ENSP00000343764.6:p.Val10952Leu | |
| ENST00000342175.11:c.13939G>C | ENSP00000340554.6:p.Val4647Leu | |
| ENST00000359218.10:c.13738G>C | ENSP00000352154.5:p.Val4580Leu | |
| ENST00000342175.10:c.13939G>C | ENSP00000340554.6:p.Val4647Leu | |
| ENST00000342992.10:c.32854G>C | ENSP00000343764.6:p.Val10952Leu | |
| ENST00000359218.9:c.13738G>C | ENSP00000352154.5:p.Val4580Leu | |
| ENST00000414766.5:c.2521G>C | ENSP00000401501.1:p.Val841Leu | |
| ENST00000426232.5:c.597-1607G>C | ||
| ENST00000446966.1:c.995-1607G>C | ENSP00000408004.1:n.995-1607G>C | |
| ENST00000460472.6:c.13363G>C | ENSP00000434586.1:p.Val4455Leu | |
| ENST00000589042.5:c.40558G>C MANE Select | ENSP00000467141.1:p.Val13520Leu | |
| ENST00000591111.5:c.35635G>C | ENSP00000465570.1:p.Val11879Leu | |
| ENST00000615779.4:c.35635G>C | ENSP00000483597.1:p.Val11879Leu | |
| NM_001256850.1:c.35635G>C | NP_001243779.1:p.Val11879Leu | |
| NM_001267550.2:c.40558G>C MANE Select | NP_001254479.2:p.Val13520Leu | |
| NM_003319.4:c.13363G>C | NP_003310.4:p.Val4455Leu | |
| NM_133378.4:c.32854G>C | NP_596869.4:p.Val10952Leu | |
| NM_133432.3:c.13738G>C | NP_597676.3:p.Val4580Leu | |
| NM_133437.4:c.13939G>C | NP_597681.4:p.Val4647Leu | |
| XM_011511729.1:c.39655G>C | XP_011510031.1:p.Val13219Leu | |
| XM_011511730.1:c.13549G>C | XP_011510032.1:p.Val4517Leu | |
| XM_011511731.1:c.13408G>C | XP_011510033.1:p.Val4470Leu | |
| XM_017004819.1:c.39451G>C | XP_016860308.1:p.Val13151Leu | |
| XM_017004820.1:c.34849G>C | XP_016860309.1:p.Val11617Leu | |
| XM_017004821.1:c.34846G>C | XP_016860310.1:p.Val11616Leu | |
| XM_017004822.1:c.31939G>C | XP_016860311.1:p.Val10647Leu | |
| XM_017004823.1:c.13504G>C | XP_016860312.1:p.Val4502Leu | |
| XM_024453094.1:c.34999G>C | XP_024308862.1:p.Val11667Leu | |
| XM_024453095.1:c.34996G>C | XP_024308863.1:p.Val11666Leu | |
| XM_024453096.1:c.34429G>C | XP_024308864.1:p.Val11477Leu | |
| XM_024453097.1:c.31771G>C | XP_024308865.1:p.Val10591Leu | |
| XM_024453098.1:c.31690G>C | XP_024308866.1:p.Val10564Leu | |
| XM_024453099.1:c.13504G>C | XP_024308867.1:p.Val4502Leu | |
| XM_024453100.1:c.3307G>C | XP_024308868.1:p.Val1103Leu |