Linked Data
ClinVar Variation Id:
265034
dbSNP Id:
rs147940248
ExAC:
5:125885897 C / T
gnomAD v2:
5-125885897-C-T
gnomAD v3:
5-126550205-C-T
gnomAD v4:
5-126550205-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126550205C>T , CM000667.2:g.126550205C>T | GRCh38 |
| NC_000005.9:g.125885897C>T , CM000667.1:g.125885897C>T | GRCh37 |
| NC_000005.8:g.125913796C>T | NCBI36 |
| NG_008600.2:g.50186G>A | |
| NG_008600.3:g.50186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1406G>A MANE Select | ENSP00000387123.3:p.Arg469His | |
| ENST00000458249.6:c.*1315G>A | ENSP00000403929.1:n.*1315G>A | |
| ENST00000497231.7:n.1833G>A | ||
| ENST00000635851.1:c.1404G>A | ||
| ENST00000636062.1:n.1301G>A | ||
| ENST00000636225.1:c.*1350G>A | ENSP00000490797.1:n.*1350G>A | |
| ENST00000636286.1:n.1124G>A | ||
| ENST00000636482.1:n.893G>A | ||
| ENST00000636743.1:c.1286G>A | ENSP00000489725.1:p.Arg429His | |
| ENST00000636808.1:c.*1215G>A | ENSP00000490833.1:n.*1215G>A | |
| ENST00000636872.1:c.1566G>A | ENSP00000490919.1:n.1566G>A | |
| ENST00000636879.1:c.1451G>A | ENSP00000490811.1:p.Arg484His | |
| ENST00000636886.1:c.1205G>A | ENSP00000490371.1:p.Arg402His | |
| ENST00000637206.1:c.1226G>A | ENSP00000489895.1:p.Arg409His | |
| ENST00000637272.1:c.1397G>A | ENSP00000489686.1:p.Arg466His | |
| ENST00000637292.1:c.862G>A | ||
| ENST00000637782.1:c.1406G>A | ENSP00000490024.1:p.Arg469His | |
| ENST00000638008.1:c.*1250G>A | ENSP00000490400.1:n.*1250G>A | |
| ENST00000638010.1:n.1352G>A | ||
| ENST00000409134.7:c.1406G>A | ENSP00000387123.3:p.Arg469His | |
| ENST00000447989.6:c.1295G>A | ENSP00000414132.2:p.Arg432His | |
| ENST00000476328.1:n.171G>A | ||
| ENST00000497231.6:n.1616G>A | ||
| ENST00000553117.5:c.1214G>A | ENSP00000448593.1:p.Arg405His | |
| NM_001182.4:c.1406G>A | NP_001173.2:p.Arg469His | |
| NM_001201377.1:c.1322G>A | NP_001188306.1:p.Arg441His | |
| NM_001202404.1:c.1295G>A | NP_001189333.1:p.Arg432His | |
| XM_011543417.1:c.1001G>A | XP_011541719.1:p.Arg334His | |
| XM_011543417.2:c.1001G>A | XP_011541719.1:p.Arg334His | |
| NM_001182.5:c.1406G>A MANE Select | NP_001173.2:p.Arg469His | |
| NM_001201377.2:c.1322G>A | NP_001188306.1:p.Arg441His | |
| NM_001202404.2:c.1214G>A | NP_001189333.2:p.Arg405His |