Linked Data
ClinVar Variation Id:
194654
dbSNP Id:
rs148648401
ExAC:
5:94860194 G / C
gnomAD v2:
5-94860194-G-C
gnomAD v3:
5-95524490-G-C
gnomAD v4:
5-95524490-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95524490G>C , CM000667.2:g.95524490G>C | GRCh38 |
| NC_000005.9:g.94860194G>C , CM000667.1:g.94860194G>C | GRCh37 |
| NC_000005.8:g.94885950G>C | NCBI36 |
| NG_023414.1:g.35516C>G , LRG_173:g.35516C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.1717C>G | ||
| ENST00000513232.2:c.*142C>G | ENSP00000422749.2:n.*142C>G | |
| ENST00000698450.1:n.811C>G | ||
| ENST00000698451.1:n.847C>G | ||
| ENST00000698452.1:n.1918C>G | ||
| ENST00000698453.1:c.1427C>G | ENSP00000513735.1:p.Thr476Arg | |
| ENST00000698454.1:c.1418C>G | ENSP00000513736.1:p.Thr473Arg | |
| ENST00000698455.1:c.*1403C>G | ENSP00000513737.1:n.*1403C>G | |
| ENST00000698456.1:c.*285C>G | ENSP00000513738.1:n.*285C>G | |
| ENST00000698457.1:c.1427C>G | ENSP00000513739.1:p.Thr476Arg | |
| ENST00000698458.1:c.1463C>G | ENSP00000513740.1:p.Thr488Arg | |
| ENST00000698459.1:c.1427C>G | ENSP00000513741.1:p.Thr476Arg | |
| ENST00000698460.1:c.1427C>G | ENSP00000513742.1:p.Thr476Arg | |
| ENST00000698461.1:n.1717C>G | ||
| ENST00000698462.1:n.1717C>G | ||
| ENST00000698468.1:n.1918C>G | ||
| ENST00000698469.1:c.*774C>G | ENSP00000513743.1:n.*774C>G | |
| ENST00000698470.1:c.1427C>G | ENSP00000513744.1:p.Thr476Arg | |
| ENST00000698471.1:n.1717C>G | ||
| ENST00000698472.1:c.*142C>G | ENSP00000513745.1:n.*142C>G | |
| ENST00000698473.1:n.1717C>G | ||
| ENST00000698474.1:n.1717C>G | ||
| ENST00000698475.1:n.1717C>G | ||
| ENST00000698476.1:c.1427C>G | ENSP00000513746.1:p.Thr476Arg | |
| ENST00000698477.1:c.1427C>G | ENSP00000513747.1:p.Thr476Arg | |
| ENST00000698478.1:n.1717C>G | ||
| ENST00000698479.1:c.1427C>G | ENSP00000513748.1:p.Thr476Arg | |
| ENST00000698480.1:c.1427C>G | ENSP00000513749.1:p.Thr476Arg | |
| ENST00000698481.1:c.1427C>G | ENSP00000513750.1:p.Thr476Arg | |
| ENST00000698482.1:n.1717C>G | ||
| ENST00000698483.1:n.1717C>G | ||
| ENST00000698484.1:c.1427C>G | ENSP00000513751.1:p.Thr476Arg | |
| ENST00000698485.1:c.1427C>G | ENSP00000513752.1:p.Thr476Arg | |
| ENST00000698486.1:n.1717C>G | ||
| ENST00000698487.1:c.1427C>G | ENSP00000513753.1:p.Thr476Arg | |
| ENST00000698488.1:c.1427C>G | ENSP00000513754.1:p.Thr476Arg | |
| ENST00000698489.1:n.5502C>G | ||
| ENST00000698490.1:c.1427C>G | ENSP00000513755.1:p.Thr476Arg | |
| ENST00000698492.1:c.*142C>G | ENSP00000513756.1:n.*142C>G | |
| ENST00000698493.1:n.1717C>G | ||
| ENST00000698494.1:c.1427C>G | ENSP00000513757.1:p.Thr476Arg | |
| ENST00000698495.1:n.1717C>G | ||
| ENST00000358746.7:c.1427C>G MANE Select | ENSP00000351596.3:p.Thr476Arg | |
| ENST00000649566.1:c.1427C>G | ENSP00000497948.1:p.Thr476Arg | |
| ENST00000358746.6:c.1427C>G | ENSP00000351596.2:p.Thr476Arg | |
| ENST00000505578.5:c.320-1164C>G | ENSP00000423141.1:n.320-1164C>G | |
| ENST00000513232.1:c.244C>G | ENSP00000422749.1:n.244C>G | |
| ENST00000514952.5:c.1283C>G | ENSP00000423742.1:p.Thr428Arg | |
| NM_014639.3:c.1427C>G , LRG_173t1:c.1427C>G | NP_055454.1:p.Thr476Arg | |
| XR_948312.1:n.1696C>G | ||
| XR_001742370.2:n.1699C>G | ||
| NM_014639.4:c.1427C>G MANE Select | NP_055454.1:p.Thr476Arg |