Linked Data
ClinVar Variation Id:
31235
dbSNP Id:
rs1060499528
gnomAD v4:
5-95516671-C-G
PubMed:
PMID:21120949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516671C>G , CM000667.2:g.95516671C>G | GRCh38 |
| NC_000005.9:g.94852375C>G , CM000667.1:g.94852375C>G | GRCh37 |
| NC_000005.8:g.94878131C>G | NCBI36 |
| NG_023414.1:g.43335G>C , LRG_173:g.43335G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506007.2:n.2971G>C | ||
| ENST00000513232.2:c.*1396G>C | ENSP00000422749.2:n.*1396G>C | |
| ENST00000698450.1:n.1899+1G>C | ||
| ENST00000698451.1:n.2101G>C | ||
| ENST00000698452.1:n.3172G>C | ||
| ENST00000698453.1:c.2442-85G>C | ENSP00000513735.1:n.2442-85G>C | |
| ENST00000698454.1:c.2506+1G>C | ENSP00000513736.1:n.2506+1G>C | |
| ENST00000698455.1:c.*2657G>C | ENSP00000513737.1:n.*2657G>C | |
| ENST00000698456.1:c.*1373+1G>C | ENSP00000513738.1:n.*1373+1G>C | |
| ENST00000698457.1:c.2305+1G>C | ENSP00000513739.1:n.2305+1G>C | |
| ENST00000698458.1:c.2478-85G>C | ENSP00000513740.1:n.2478-85G>C | |
| ENST00000698459.1:c.2515+1G>C | ENSP00000513741.1:n.2515+1G>C | |
| ENST00000698460.1:c.*279-85G>C | ENSP00000513742.1:n.*279-85G>C | |
| ENST00000698461.1:n.2970+1G>C | ||
| ENST00000698462.1:n.2890+1G>C | ||
| ENST00000698468.1:n.3172G>C | ||
| ENST00000698469.1:c.*2028G>C | ENSP00000513743.1:n.*2028G>C | |
| ENST00000698470.1:c.*523G>C | ENSP00000513744.1:n.*523G>C | |
| ENST00000698471.1:n.2971G>C | ||
| ENST00000698472.1:c.*1396G>C | ENSP00000513745.1:n.*1396G>C | |
| ENST00000698473.1:n.2971G>C | ||
| ENST00000698474.1:n.2971G>C | ||
| ENST00000698475.1:n.3056G>C | ||
| ENST00000698476.1:c.2515+1G>C | ENSP00000513746.1:n.2515+1G>C | |
| ENST00000698477.1:c.2442-85G>C | ENSP00000513747.1:n.2442-85G>C | |
| ENST00000698478.1:n.2971G>C | ||
| ENST00000698479.1:c.2515+1G>C | ENSP00000513748.1:n.2515+1G>C | |
| ENST00000698480.1:c.2437-85G>C | ENSP00000513749.1:n.2437-85G>C | |
| ENST00000698481.1:c.2437-85G>C | ENSP00000513750.1:n.2437-85G>C | |
| ENST00000698482.1:n.2805+1G>C | ||
| ENST00000698483.1:n.2970+1G>C | ||
| ENST00000698484.1:c.2515+1G>C | ENSP00000513751.1:n.2515+1G>C | |
| ENST00000698485.1:c.2437-85G>C | ENSP00000513752.1:n.2437-85G>C | |
| ENST00000698486.1:n.2971G>C | ||
| ENST00000698487.1:c.2515+1G>C | ENSP00000513753.1:n.2515+1G>C | |
| ENST00000698488.1:c.2260-85G>C | ENSP00000513754.1:n.2260-85G>C | |
| ENST00000698489.1:n.6756G>C | ||
| ENST00000698490.1:c.2515+1G>C | ENSP00000513755.1:n.2515+1G>C | |
| ENST00000698492.1:c.*1230+1G>C | ENSP00000513756.1:n.*1230+1G>C | |
| ENST00000698493.1:n.2805+1G>C | ||
| ENST00000698494.1:c.*411G>C | ENSP00000513757.1:n.*411G>C | |
| ENST00000358746.7:c.2515+1G>C MANE Select | ENSP00000351596.3:n.2515+1G>C | |
| ENST00000649566.1:c.2515+1G>C | ENSP00000497948.1:n.2515+1G>C | |
| ENST00000358746.6:c.2515+1G>C | ENSP00000351596.2:n.2515+1G>C | |
| ENST00000506007.1:n.98G>C | ||
| ENST00000507805.5:n.703G>C | ||
| ENST00000508181.5:n.4G>C | ||
| NM_014639.3:c.2515+1G>C , LRG_173t1:c.2515+1G>C | NP_055454.1:n.2515+1G>C | |
| XR_948312.1:n.2784+1G>C | ||
| XR_001742370.2:n.2787+1G>C | ||
| NM_014639.4:c.2515+1G>C MANE Select | NP_055454.1:n.2515+1G>C |