Linked Data
ClinVar Variation Id:
2779394
ClinVar RCV Id:
RCV003663583
dbSNP Id:
rs747558945
gnomAD v2:
10-27322216-G-C
gnomAD v4:
10-27033287-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27033287G>C , CM000672.2:g.27033287G>C | GRCh38 |
| NC_000010.10:g.27322216G>C , CM000672.1:g.27322216G>C | GRCh37 |
| NC_000010.9:g.27362222G>C | NCBI36 |
| NG_031973.2:g.72212C>G , LRG_605:g.72212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376087.5:c.3745C>G MANE Select | ENSP00000365255.4:p.Arg1249Gly | |
| ENST00000436985.7:c.3742C>G | ENSP00000405112.3:p.Arg1248Gly | |
| ENST00000675116.1:c.1395C>G | ||
| ENST00000675936.1:c.161C>G | ||
| ENST00000376087.4:c.3745C>G | ENSP00000365255.4:p.Arg1249Gly | |
| ENST00000436985.6:c.3793C>G | ENSP00000405112.2:p.Arg1265Gly | |
| NM_001256053.1:c.3742C>G | NP_001242982.1:p.Arg1248Gly | |
| NM_014915.2:c.3745C>G , LRG_605t1:c.3745C>G | NP_055730.2:p.Arg1249Gly | |
| XM_006717423.2:c.4831C>G | XP_006717486.1:p.Arg1611Gly | |
| XM_006717424.2:c.4828C>G | XP_006717487.1:p.Arg1610Gly | |
| XM_006717425.2:c.4831C>G | XP_006717488.1:p.Arg1611Gly | |
| XM_006717427.2:c.3988C>G | XP_006717490.1:p.Arg1330Gly | |
| XM_006717428.2:c.3646C>G | XP_006717491.1:p.Arg1216Gly | |
| XM_011519415.1:c.4819C>G | XP_011517717.1:p.Arg1607Gly | |
| XM_011519416.1:c.4831C>G | XP_011517718.1:p.Arg1611Gly | |
| XM_011519417.1:c.4831C>G | XP_011517719.1:p.Arg1611Gly | |
| XM_011519418.1:c.4831C>G | XP_011517720.1:p.Arg1611Gly | |
| XM_011519419.1:c.4732C>G | XP_011517721.1:p.Arg1578Gly | |
| XM_011519420.1:c.4831C>G | XP_011517722.1:p.Arg1611Gly | |
| XM_011519421.1:c.3988C>G | XP_011517723.1:p.Arg1330Gly | |
| XM_011519422.1:c.4831C>G | XP_011517724.1:p.Arg1611Gly | |
| XM_011519423.1:c.3988C>G | XP_011517725.1:p.Arg1330Gly | |
| XM_011519424.1:c.3445C>G | XP_011517726.1:p.Arg1149Gly | |
| XR_930483.1:n.5003C>G | ||
| XR_930484.1:n.5003C>G | ||
| XM_006717425.4:c.4831C>G | XP_006717488.1:p.Arg1611Gly | |
| XM_011519416.2:c.4831C>G | XP_011517718.1:p.Arg1611Gly | |
| XM_017015928.1:c.4831C>G | XP_016871417.1:p.Arg1611Gly | |
| XM_017015929.1:c.4819C>G | XP_016871418.1:p.Arg1607Gly | |
| XM_017015930.1:c.4831C>G | XP_016871419.1:p.Arg1611Gly | |
| XM_017015931.1:c.4831C>G | XP_016871420.1:p.Arg1611Gly | |
| XM_017015932.1:c.4831C>G | XP_016871421.1:p.Arg1611Gly | |
| XM_017015933.1:c.4831C>G | XP_016871422.1:p.Arg1611Gly | |
| NM_001256053.2:c.3742C>G | NP_001242982.1:p.Arg1248Gly | |
| NM_014915.3:c.3745C>G MANE Select | NP_055730.2:p.Arg1249Gly |