Linked Data
ClinVar Variation Id:
31237
ClinVar RCV Id:
RCV000024236
dbSNP Id:
rs370373017
ExAC:
5:94803569 C / G
gnomAD v2:
5-94803569-C-G
gnomAD v4:
5-95467865-C-G
PubMed:
PMID:21120949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95467865C>G , CM000667.2:g.95467865C>G | GRCh38 |
| NC_000005.9:g.94803569C>G , CM000667.1:g.94803569C>G | GRCh37 |
| NC_000005.8:g.94829325C>G | NCBI36 |
| NG_023414.1:g.92141G>C , LRG_173:g.92141G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.6112+1G>C | ||
| ENST00000513232.2:c.*3443+1G>C | ENSP00000422749.2:n.*3443+1G>C | |
| ENST00000698450.1:n.4004+1G>C | ||
| ENST00000698451.1:n.4290+1G>C | ||
| ENST00000698452.1:n.5462+1G>C | ||
| ENST00000698453.1:c.*2041+1G>C | ENSP00000513735.1:n.*2041+1G>C | |
| ENST00000698454.1:c.4611+1G>C | ENSP00000513736.1:n.4611+1G>C | |
| ENST00000698455.1:c.*4846+1G>C | ENSP00000513737.1:n.*4846+1G>C | |
| ENST00000698456.1:c.*3478+1G>C | ENSP00000513738.1:n.*3478+1G>C | |
| ENST00000698457.1:c.4410+1G>C | ENSP00000513739.1:n.4410+1G>C | |
| ENST00000698458.1:c.*2041+1G>C | ENSP00000513740.1:n.*2041+1G>C | |
| ENST00000698459.1:c.*1982+1G>C | ENSP00000513741.1:n.*1982+1G>C | |
| ENST00000698460.1:c.*2383+1G>C | ENSP00000513742.1:n.*2383+1G>C | |
| ENST00000698461.1:n.5075+1G>C | ||
| ENST00000698462.1:n.4995+1G>C | ||
| ENST00000698463.1:n.2402+1G>C | ||
| ENST00000698464.1:n.1868+1G>C | ||
| ENST00000698465.1:n.1645+1G>C | ||
| ENST00000698466.1:n.6235+1G>C | ||
| ENST00000698467.1:n.2220+1G>C | ||
| ENST00000698468.1:n.5485+1G>C | ||
| ENST00000698469.1:c.*4075+1G>C | ENSP00000513743.1:n.*4075+1G>C | |
| ENST00000698470.1:c.*2570+1G>C | ENSP00000513744.1:n.*2570+1G>C | |
| ENST00000698471.1:n.7539+1G>C | ||
| ENST00000698472.1:c.*3624+1G>C | ENSP00000513745.1:n.*3624+1G>C | |
| ENST00000698473.1:n.6119+1G>C | ||
| ENST00000698474.1:n.5221+1G>C | ||
| ENST00000698475.1:n.7827+1G>C | ||
| ENST00000698476.1:c.*971+1G>C | ENSP00000513746.1:n.*971+1G>C | |
| ENST00000698477.1:c.*1774+1G>C | ENSP00000513747.1:n.*1774+1G>C | |
| ENST00000698478.1:n.4874+1G>C | ||
| ENST00000698479.1:c.4662+1G>C | ENSP00000513748.1:n.4662+1G>C | |
| ENST00000698480.1:c.*1930+1G>C | ENSP00000513749.1:n.*1930+1G>C | |
| ENST00000698481.1:c.*1773+1G>C | ENSP00000513750.1:n.*1773+1G>C | |
| ENST00000698482.1:n.8260+1G>C | ||
| ENST00000698483.1:n.8425+1G>C | ||
| ENST00000698484.1:c.*1550+1G>C | ENSP00000513751.1:n.*1550+1G>C | |
| ENST00000698485.1:c.*1915+1G>C | ENSP00000513752.1:n.*1915+1G>C | |
| ENST00000698486.1:n.5157+1G>C | ||
| ENST00000698487.1:c.4614+1G>C | ENSP00000513753.1:n.4614+1G>C | |
| ENST00000698488.1:c.*1792+1G>C | ENSP00000513754.1:n.*1792+1G>C | |
| ENST00000698489.1:n.8941+1G>C | ||
| ENST00000698490.1:c.4611+1G>C | ENSP00000513755.1:n.4611+1G>C | |
| ENST00000698491.1:n.360+1G>C | ||
| ENST00000698492.1:c.*3213+1G>C | ENSP00000513756.1:n.*3213+1G>C | |
| ENST00000698493.1:n.4911G>C | ||
| ENST00000358746.7:c.4620+1G>C MANE Select | ENSP00000351596.3:n.4620+1G>C | |
| ENST00000649566.1:c.4620+1G>C | ENSP00000497948.1:n.4620+1G>C | |
| ENST00000358746.6:c.4620+1G>C | ENSP00000351596.2:n.4620+1G>C | |
| NM_014639.3:c.4620+1G>C , LRG_173t1:c.4620+1G>C | NP_055454.1:n.4620+1G>C | |
| NM_014639.4:c.4620+1G>C MANE Select | NP_055454.1:n.4620+1G>C |