Linked Data
ClinVar Variation Id:
204852
dbSNP Id:
rs556400964
ExAC:
5:125882068 C / G
gnomAD v2:
5-125882068-C-G
gnomAD v3:
5-126546376-C-G
gnomAD v4:
5-126546376-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126546376C>G , CM000667.2:g.126546376C>G | GRCh38 |
| NC_000005.9:g.125882068C>G , CM000667.1:g.125882068C>G | GRCh37 |
| NC_000005.8:g.125909967C>G | NCBI36 |
| NG_008600.2:g.54015G>C | |
| NG_008600.3:g.54015G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1513G>C MANE Select | ENSP00000387123.3:p.Gly505Arg | |
| ENST00000458249.6:c.*1422G>C | ENSP00000403929.1:n.*1422G>C | |
| ENST00000485852.7:n.260G>C | ||
| ENST00000497231.7:n.1940G>C | ||
| ENST00000635851.1:c.1511G>C | ||
| ENST00000636225.1:c.*1457G>C | ENSP00000490797.1:n.*1457G>C | |
| ENST00000636286.1:n.1278G>C | ||
| ENST00000636482.1:n.1047G>C | ||
| ENST00000636743.1:c.1393G>C | ENSP00000489725.1:p.Gly465Arg | |
| ENST00000636808.1:c.*1322G>C | ENSP00000490833.1:n.*1322G>C | |
| ENST00000636872.1:c.1673G>C | ENSP00000490919.1:n.1673G>C | |
| ENST00000636879.1:c.1558G>C | ENSP00000490811.1:p.Gly520Arg | |
| ENST00000636886.1:c.1312G>C | ENSP00000490371.1:p.Gly438Arg | |
| ENST00000637206.1:c.1333G>C | ENSP00000489895.1:p.Gly445Arg | |
| ENST00000637272.1:c.1504G>C | ENSP00000489686.1:p.Gly502Arg | |
| ENST00000637292.1:c.969G>C | ||
| ENST00000637782.1:c.1513G>C | ENSP00000490024.1:p.Gly505Arg | |
| ENST00000638008.1:c.*1357G>C | ENSP00000490400.1:n.*1357G>C | |
| ENST00000638010.1:n.1459G>C | ||
| ENST00000409134.7:c.1513G>C | ENSP00000387123.3:p.Gly505Arg | |
| ENST00000447989.6:c.1402G>C | ENSP00000414132.2:p.Gly468Arg | |
| ENST00000485852.6:n.260G>C | ||
| ENST00000497231.6:n.1723G>C | ||
| ENST00000553117.5:c.1321G>C | ENSP00000448593.1:p.Gly441Arg | |
| NM_001182.4:c.1513G>C | NP_001173.2:p.Gly505Arg | |
| NM_001201377.1:c.1429G>C | NP_001188306.1:p.Gly477Arg | |
| NM_001202404.1:c.1402G>C | NP_001189333.1:p.Gly468Arg | |
| XM_011543417.1:c.1108G>C | XP_011541719.1:p.Gly370Arg | |
| XM_011543417.2:c.1108G>C | XP_011541719.1:p.Gly370Arg | |
| NM_001182.5:c.1513G>C MANE Select | NP_001173.2:p.Gly505Arg | |
| NM_001201377.2:c.1429G>C | NP_001188306.1:p.Gly477Arg | |
| NM_001202404.2:c.1321G>C | NP_001189333.2:p.Gly441Arg |