Linked Data
ClinVar Variation Id:
46395
dbSNP Id:
rs111033517
ExAC:
5:90002132 T / C
gnomAD v2:
5-90002132-T-C
gnomAD v3:
5-90706315-T-C
gnomAD v4:
5-90706315-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90706315T>C , CM000667.2:g.90706315T>C | GRCh38 |
| NC_000005.9:g.90002132T>C , CM000667.1:g.90002132T>C | GRCh37 |
| NC_000005.8:g.90037888T>C | NCBI36 |
| NG_007083.1:g.152516T>C | |
| NG_007083.2:g.181972T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.8651T>C MANE Select | ENSP00000384582.2:p.Val2884Ala | |
| ENST00000639431.1:c.265+30106T>C | ENSP00000491057.1:n.265+30106T>C | |
| ENST00000639473.1:n.4110T>C | ||
| ENST00000640012.1:c.2458T>C | ||
| ENST00000640374.1:n.1795T>C | ||
| ENST00000640403.1:c.5942T>C | ENSP00000492531.1:p.Val1981Ala | |
| ENST00000640779.1:c.3380T>C | ||
| ENST00000405460.6:c.8651T>C | ENSP00000384582.2:p.Val2884Ala | |
| ENST00000509621.1:c.1348T>C | ||
| NM_032119.3:c.8651T>C | NP_115495.3:p.Val2884Ala | |
| NR_003149.1:n.8664T>C | ||
| XM_011543675.1:c.8648T>C | XP_011541977.1:p.Val2883Ala | |
| XM_011543676.1:c.8570T>C | XP_011541978.1:p.Val2857Ala | |
| XM_011543677.1:c.5954T>C | XP_011541979.1:p.Val1985Ala | |
| XM_011543678.1:c.8651T>C | XP_011541980.1:p.Val2884Ala | |
| XM_011543679.1:c.8651T>C | XP_011541981.1:p.Val2884Ala | |
| NM_032119.4:c.8651T>C MANE Select | NP_115495.3:p.Val2884Ala | |
| XM_017009963.2:c.8672T>C | XP_016865452.1:p.Val2891Ala | |
| XM_017009964.2:c.8669T>C | XP_016865453.1:p.Val2890Ala | |
| XM_017009965.1:c.8669T>C | XP_016865454.1:p.Val2890Ala | |
| XM_017009966.2:c.8591T>C | XP_016865455.1:p.Val2864Ala | |
| XM_017009967.1:c.8576T>C | XP_016865456.1:p.Val2859Ala | |
| XM_017009968.2:c.8672T>C | XP_016865457.1:p.Val2891Ala | |
| XM_017009969.2:c.8672T>C | XP_016865458.1:p.Val2891Ala | |
| XM_017009970.2:c.8672T>C | XP_016865459.1:p.Val2891Ala | |
| XM_017009971.2:c.8672T>C | XP_016865460.1:p.Val2891Ala | |
| XM_017009972.1:c.1790T>C | XP_016865461.1:p.Val597Ala | |
| XM_017009973.1:c.1769T>C | XP_016865462.1:p.Val590Ala | |
| XM_017009974.2:c.8672T>C | XP_016865463.1:p.Val2891Ala | |
| NR_003149.2:n.8667T>C |