Linked Data
ClinVar Variation Id:
46354
dbSNP Id:
rs200055351
ExAC:
5:89985795 T / C
gnomAD v2:
5-89985795-T-C
gnomAD v3:
5-90689978-T-C
gnomAD v4:
5-90689978-T-C
PubMed:
PMID:22135276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90689978T>C , CM000667.2:g.90689978T>C | GRCh38 |
| NC_000005.9:g.89985795T>C , CM000667.1:g.89985795T>C | GRCh37 |
| NC_000005.8:g.90021551T>C | NCBI36 |
| NG_007083.1:g.136179T>C | |
| NG_007083.2:g.165635T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.6608T>C MANE Select | ENSP00000384582.2:p.Val2203Ala | |
| ENST00000639431.1:c.265+13769T>C | ENSP00000491057.1:n.265+13769T>C | |
| ENST00000639473.1:n.2067T>C | ||
| ENST00000640012.1:c.498T>C | ||
| ENST00000640403.1:c.3899T>C | ENSP00000492531.1:p.Val1300Ala | |
| ENST00000640779.1:c.1420T>C | ||
| ENST00000405460.6:c.6608T>C | ENSP00000384582.2:p.Val2203Ala | |
| NM_032119.3:c.6608T>C | NP_115495.3:p.Val2203Ala | |
| NR_003149.1:n.6704T>C | ||
| XM_011543675.1:c.6605T>C | XP_011541977.1:p.Val2202Ala | |
| XM_011543676.1:c.6527T>C | XP_011541978.1:p.Val2176Ala | |
| XM_011543677.1:c.3911T>C | XP_011541979.1:p.Val1304Ala | |
| XM_011543678.1:c.6608T>C | XP_011541980.1:p.Val2203Ala | |
| XM_011543679.1:c.6608T>C | XP_011541981.1:p.Val2203Ala | |
| NM_032119.4:c.6608T>C MANE Select | NP_115495.3:p.Val2203Ala | |
| XM_017009963.2:c.6608T>C | XP_016865452.1:p.Val2203Ala | |
| XM_017009964.2:c.6605T>C | XP_016865453.1:p.Val2202Ala | |
| XM_017009965.1:c.6605T>C | XP_016865454.1:p.Val2202Ala | |
| XM_017009966.2:c.6527T>C | XP_016865455.1:p.Val2176Ala | |
| XM_017009967.1:c.6512T>C | XP_016865456.1:p.Val2171Ala | |
| XM_017009968.2:c.6608T>C | XP_016865457.1:p.Val2203Ala | |
| XM_017009969.2:c.6608T>C | XP_016865458.1:p.Val2203Ala | |
| XM_017009970.2:c.6608T>C | XP_016865459.1:p.Val2203Ala | |
| XM_017009971.2:c.6608T>C | XP_016865460.1:p.Val2203Ala | |
| XM_017009972.1:c.-192T>C | XP_016865461.1:n.-192T>C | |
| XM_017009973.1:c.-192T>C | XP_016865462.1:n.-192T>C | |
| XM_017009974.2:c.6608T>C | XP_016865463.1:p.Val2203Ala | |
| NR_003149.2:n.6707T>C |