Linked Data
ClinVar Variation Id:
283235
dbSNP Id:
rs138514054
ExAC:
14:64548293 G / C
gnomAD v2:
14-64548293-G-C
gnomAD v3:
14-64081575-G-C
gnomAD v4:
14-64081575-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64081575G>C , CM000676.2:g.64081575G>C | GRCh38 |
| NC_000014.8:g.64548293G>C , CM000676.1:g.64548293G>C | GRCh37 |
| NC_000014.7:g.63618046G>C | NCBI36 |
| NG_011756.1:g.233611G>C | |
| NG_011756.2:g.324677G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.11479G>C MANE Select | ENSP00000450831.2:p.Val3827Leu | |
| ENST00000674144.1:c.*8394G>C | ENSP00000501227.1:n.*8394G>C | |
| ENST00000344113.8:c.11479G>C | ENSP00000341781.4:p.Val3827Leu | |
| ENST00000357395.7:c.11578G>C | ENSP00000349969.4:p.Val3860Leu | |
| ENST00000358025.7:c.11479G>C | ENSP00000350719.3:p.Val3827Leu | |
| ENST00000394768.6:c.565G>C | ENSP00000378249.2:p.Val189Leu | |
| ENST00000554584.5:c.11578G>C | ENSP00000452570.1:p.Val3860Leu | |
| ENST00000555002.5:c.1381G>C | ENSP00000450831.1:p.Val461Leu | |
| ENST00000557060.1:n.762G>C | ||
| NM_015180.4:c.11479G>C | NP_055995.4:p.Val3827Leu | |
| NM_182914.2:c.11479G>C | NP_878918.2:p.Val3827Leu | |
| XM_005267454.1:c.11479G>C | XP_005267511.1:p.Val3827Leu | |
| XM_005267456.1:c.11479G>C | XP_005267513.1:p.Val3827Leu | |
| XM_005267457.1:c.11479G>C | XP_005267514.1:p.Val3827Leu | |
| XM_005267458.1:c.11479G>C | XP_005267515.1:p.Val3827Leu | |
| XM_005267459.1:c.11479G>C | XP_005267516.1:p.Val3827Leu | |
| XM_006720084.2:c.11479G>C | XP_006720147.1:p.Val3827Leu | |
| XM_011536574.1:c.11479G>C | XP_011534876.1:p.Val3827Leu | |
| XM_011536575.1:c.11479G>C | XP_011534877.1:p.Val3827Leu | |
| XM_011536576.1:c.11479G>C | XP_011534878.1:p.Val3827Leu | |
| XM_011536577.1:c.11479G>C | XP_011534879.1:p.Val3827Leu | |
| XM_011536578.1:c.11479G>C | XP_011534880.1:p.Val3827Leu | |
| XM_011536579.1:c.11479G>C | XP_011534881.1:p.Val3827Leu | |
| XM_011536580.1:c.11479G>C | XP_011534882.1:p.Val3827Leu | |
| XM_011536581.1:c.11479G>C | XP_011534883.1:p.Val3827Leu | |
| XM_011536582.1:c.11479G>C | XP_011534884.1:p.Val3827Leu | |
| XM_011536583.1:c.8284G>C | XP_011534885.1:p.Val2762Leu | |
| XM_011536584.1:c.11479G>C | XP_011534886.1:p.Val3827Leu | |
| XM_011536575.2:c.11479G>C | XP_011534877.1:p.Val3827Leu | |
| XM_011536576.2:c.11479G>C | XP_011534878.1:p.Val3827Leu | |
| XM_011536577.2:c.11479G>C | XP_011534879.1:p.Val3827Leu | |
| XM_011536580.2:c.11479G>C | XP_011534882.1:p.Val3827Leu | |
| XM_011536584.2:c.11479G>C | XP_011534886.1:p.Val3827Leu | |
| XM_017021101.1:c.11479G>C | XP_016876590.1:p.Val3827Leu | |
| XM_017021102.1:c.11410G>C | XP_016876591.1:p.Val3804Leu | |
| XR_001750198.1:n.11709G>C | ||
| NM_015180.5:c.11479G>C | NP_055995.4:p.Val3827Leu | |
| NM_015180.6:c.11479G>C | NP_055995.4:p.Val3827Leu | |
| NM_182914.3:c.11479G>C MANE Select | NP_878918.2:p.Val3827Leu |