Linked Data
ClinVar Variation Id:
2166653
ClinVar RCV Id:
RCV003091872
dbSNP Id:
rs749231711
ExAC:
5:125882028 C / T
gnomAD v2:
5-125882028-C-T
gnomAD v4:
5-126546336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126546336C>T , CM000667.2:g.126546336C>T | GRCh38 |
| NC_000005.9:g.125882028C>T , CM000667.1:g.125882028C>T | GRCh37 |
| NC_000005.8:g.125909927C>T | NCBI36 |
| NG_008600.2:g.54055G>A | |
| NG_008600.3:g.54055G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1553G>A MANE Select | ENSP00000387123.3:p.Arg518Lys | |
| ENST00000458249.6:c.*1462G>A | ENSP00000403929.1:n.*1462G>A | |
| ENST00000485852.7:n.300G>A | ||
| ENST00000497231.7:n.1980G>A | ||
| ENST00000635851.1:c.1551G>A | ||
| ENST00000636286.1:n.1318G>A | ||
| ENST00000636482.1:n.1087G>A | ||
| ENST00000636743.1:c.1433G>A | ENSP00000489725.1:p.Arg478Lys | |
| ENST00000636808.1:c.*1362G>A | ENSP00000490833.1:n.*1362G>A | |
| ENST00000636872.1:c.1713G>A | ENSP00000490919.1:n.1713G>A | |
| ENST00000636879.1:c.1598G>A | ENSP00000490811.1:p.Arg533Lys | |
| ENST00000636886.1:c.1352G>A | ENSP00000490371.1:p.Arg451Lys | |
| ENST00000637206.1:c.1373G>A | ENSP00000489895.1:p.Arg458Lys | |
| ENST00000637272.1:c.1544G>A | ENSP00000489686.1:p.Arg515Lys | |
| ENST00000637292.1:c.1009G>A | ||
| ENST00000637782.1:c.1553G>A | ENSP00000490024.1:p.Arg518Lys | |
| ENST00000638008.1:c.*1397G>A | ENSP00000490400.1:n.*1397G>A | |
| ENST00000638010.1:n.1499G>A | ||
| ENST00000409134.7:c.1553G>A | ENSP00000387123.3:p.Arg518Lys | |
| ENST00000447989.6:c.1442G>A | ENSP00000414132.2:p.Arg481Lys | |
| ENST00000485852.6:n.300G>A | ||
| ENST00000497231.6:n.1763G>A | ||
| ENST00000553117.5:c.1361G>A | ENSP00000448593.1:p.Arg454Lys | |
| NM_001182.4:c.1553G>A | NP_001173.2:p.Arg518Lys | |
| NM_001201377.1:c.1469G>A | NP_001188306.1:p.Arg490Lys | |
| NM_001202404.1:c.1442G>A | NP_001189333.1:p.Arg481Lys | |
| XM_011543417.1:c.1148G>A | XP_011541719.1:p.Arg383Lys | |
| XM_011543417.2:c.1148G>A | XP_011541719.1:p.Arg383Lys | |
| NM_001182.5:c.1553G>A MANE Select | NP_001173.2:p.Arg518Lys | |
| NM_001201377.2:c.1469G>A | NP_001188306.1:p.Arg490Lys | |
| NM_001202404.2:c.1361G>A | NP_001189333.2:p.Arg454Lys |