Linked Data
ClinVar Variation Id:
299719
ClinVar RCV Id:
RCV000277079
dbSNP Id:
rs886046940
gnomAD v3:
10-27004886-G-C
gnomAD v4:
10-27004886-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27004886G>C , CM000672.2:g.27004886G>C | GRCh38 |
| NC_000010.10:g.27293815G>C , CM000672.1:g.27293815G>C | GRCh37 |
| NC_000010.9:g.27333821G>C | NCBI36 |
| NG_031973.2:g.100613C>G , LRG_605:g.100613C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376087.5:c.*704C>G MANE Select | ENSP00000365255.4:n.*704C>G | |
| ENST00000674670.1:c.489+2031C>G | ||
| ENST00000675439.1:c.324+2031C>G | ||
| ENST00000675936.1:c.1522+731C>G | ||
| ENST00000676280.1:c.1219C>G | ||
| ENST00000376087.4:c.*704C>G | ENSP00000365255.4:n.*704C>G | |
| ENST00000436985.6:c.*704C>G | ENSP00000405112.2:n.*704C>G | |
| ENST00000445828.5:c.562+737C>G | ||
| NM_001256053.1:c.*704C>G | NP_001242982.1:n.*704C>G | |
| NM_014915.2:c.*704C>G , LRG_605t1:c.*704C>G | NP_055730.2:n.*704C>G | |
| XM_006717423.2:c.*704C>G | XP_006717486.1:n.*704C>G | |
| XM_006717424.2:c.*704C>G | XP_006717487.1:n.*704C>G | |
| XM_006717425.2:c.6085+2031C>G | XP_006717488.1:n.6085+2031C>G | |
| XM_006717427.2:c.*704C>G | XP_006717490.1:n.*704C>G | |
| XM_006717428.2:c.*704C>G | XP_006717491.1:n.*704C>G | |
| XM_011519415.1:c.*704C>G | XP_011517717.1:n.*704C>G | |
| XM_011519416.1:c.6085+2031C>G | XP_011517718.1:n.6085+2031C>G | |
| XM_011519417.1:c.6085+2031C>G | XP_011517719.1:n.6085+2031C>G | |
| XM_011519418.1:c.6085+2031C>G | XP_011517720.1:n.6085+2031C>G | |
| XM_011519419.1:c.*704C>G | XP_011517721.1:n.*704C>G | |
| XM_011519420.1:c.*704C>G | XP_011517722.1:n.*704C>G | |
| XM_011519421.1:c.*704C>G | XP_011517723.1:n.*704C>G | |
| XM_011519423.1:c.*704C>G | XP_011517725.1:n.*704C>G | |
| XM_011519424.1:c.*704C>G | XP_011517726.1:n.*704C>G | |
| XR_930483.1:n.6257+2031C>G | ||
| XR_930484.1:n.6257+2031C>G | ||
| XM_006717425.4:c.6085+2031C>G | XP_006717488.1:n.6085+2031C>G | |
| XM_011519416.2:c.6085+2031C>G | XP_011517718.1:n.6085+2031C>G | |
| XM_017015928.1:c.6085+2031C>G | XP_016871417.1:n.6085+2031C>G | |
| XM_017015929.1:c.6073+2031C>G | XP_016871418.1:n.6073+2031C>G | |
| XM_017015930.1:c.6085+2031C>G | XP_016871419.1:n.6085+2031C>G | |
| XM_017015931.1:c.6085+2031C>G | XP_016871420.1:n.6085+2031C>G | |
| XM_017015932.1:c.6085+2031C>G | XP_016871421.1:n.6085+2031C>G | |
| XM_017015933.1:c.*2160C>G | XP_016871422.1:n.*2160C>G | |
| NM_001256053.2:c.*704C>G | NP_001242982.1:n.*704C>G | |
| NM_014915.3:c.*704C>G MANE Select | NP_055730.2:n.*704C>G |