Linked Data
ClinVar Variation Id:
6798
dbSNP Id:
rs121909762
ExAC:
5:89986808 C / T
gnomAD v2:
5-89986808-C-T
gnomAD v3:
5-90690991-C-T
gnomAD v4:
5-90690991-C-T
COSMIC:
COSM141910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90690991C>T , CM000667.2:g.90690991C>T | GRCh38 |
| NC_000005.9:g.89986808C>T , CM000667.1:g.89986808C>T | GRCh37 |
| NC_000005.8:g.90022564C>T | NCBI36 |
| NG_007083.1:g.137192C>T | |
| NG_007083.2:g.166648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.6901C>T MANE Select | ENSP00000384582.2:p.Gln2301Ter | |
| ENST00000639431.1:c.265+14782C>T | ENSP00000491057.1:n.265+14782C>T | |
| ENST00000639473.1:n.2360C>T | ||
| ENST00000640012.1:c.758+33C>T | ||
| ENST00000640374.1:n.45C>T | ||
| ENST00000640403.1:c.4192C>T | ENSP00000492531.1:p.Gln1398Ter | |
| ENST00000640779.1:c.1680+33C>T | ||
| ENST00000405460.6:c.6901C>T | ENSP00000384582.2:p.Gln2301Ter | |
| NM_032119.3:c.6901C>T | NP_115495.3:p.Gln2301Ter | |
| NR_003149.1:n.6964+33C>T | ||
| XM_011543675.1:c.6898C>T | XP_011541977.1:p.Gln2300Ter | |
| XM_011543676.1:c.6820C>T | XP_011541978.1:p.Gln2274Ter | |
| XM_011543677.1:c.4204C>T | XP_011541979.1:p.Gln1402Ter | |
| XM_011543678.1:c.6901C>T | XP_011541980.1:p.Gln2301Ter | |
| XM_011543679.1:c.6901C>T | XP_011541981.1:p.Gln2301Ter | |
| NM_032119.4:c.6901C>T MANE Select | NP_115495.3:p.Gln2301Ter | |
| XM_017009963.2:c.6901C>T | XP_016865452.1:p.Gln2301Ter | |
| XM_017009964.2:c.6898C>T | XP_016865453.1:p.Gln2300Ter | |
| XM_017009965.1:c.6898C>T | XP_016865454.1:p.Gln2300Ter | |
| XM_017009966.2:c.6820C>T | XP_016865455.1:p.Gln2274Ter | |
| XM_017009967.1:c.6805C>T | XP_016865456.1:p.Gln2269Ter | |
| XM_017009968.2:c.6901C>T | XP_016865457.1:p.Gln2301Ter | |
| XM_017009969.2:c.6901C>T | XP_016865458.1:p.Gln2301Ter | |
| XM_017009970.2:c.6901C>T | XP_016865459.1:p.Gln2301Ter | |
| XM_017009971.2:c.6901C>T | XP_016865460.1:p.Gln2301Ter | |
| XM_017009972.1:c.69+33C>T | XP_016865461.1:n.69+33C>T | |
| XM_017009973.1:c.69+33C>T | XP_016865462.1:n.69+33C>T | |
| XM_017009974.2:c.6901C>T | XP_016865463.1:p.Gln2301Ter | |
| NR_003149.2:n.6967+33C>T |