Linked Data
ClinVar Variation Id:
842000
ClinVar RCV Id:
RCV001044331
dbSNP Id:
rs1197981680
gnomAD v3:
5-126592717-C-G
gnomAD v4:
5-126592717-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126592717C>G , CM000667.2:g.126592717C>G | GRCh38 |
| NC_000005.9:g.125928409C>G , CM000667.1:g.125928409C>G | GRCh37 |
| NC_000005.8:g.125956308C>G | NCBI36 |
| NG_008600.2:g.7674G>C | |
| NG_008600.3:g.7674G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.259G>C MANE Select | ENSP00000387123.3:p.Asp87His | |
| ENST00000412186.2:c.259G>C | ENSP00000414536.2:p.Asp87His | |
| ENST00000413020.6:c.259G>C | ENSP00000487936.1:p.Asp87His | |
| ENST00000458249.6:c.*168G>C | ENSP00000403929.1:n.*168G>C | |
| ENST00000479989.6:n.442G>C | ||
| ENST00000503281.6:c.106+2290G>C | ||
| ENST00000509270.2:c.246+634G>C | ENSP00000449318.2:n.246+634G>C | |
| ENST00000509459.6:c.65+2290G>C | ||
| ENST00000511266.6:n.981G>C | ||
| ENST00000635851.1:c.257G>C | ||
| ENST00000635858.1:n.98G>C | ||
| ENST00000635933.1:n.288G>C | ||
| ENST00000636062.1:n.154G>C | ||
| ENST00000636190.1:n.138G>C | ||
| ENST00000636225.1:c.*68G>C | ENSP00000490797.1:n.*68G>C | |
| ENST00000636743.1:c.192+2290G>C | ENSP00000489725.1:n.192+2290G>C | |
| ENST00000636808.1:c.*68G>C | ENSP00000490833.1:n.*68G>C | |
| ENST00000636872.1:c.419G>C | ENSP00000490919.1:n.419G>C | |
| ENST00000636879.1:c.259G>C | ENSP00000490811.1:p.Asp87His | |
| ENST00000636886.1:c.192+2290G>C | ENSP00000490371.1:n.192+2290G>C | |
| ENST00000637206.1:c.259G>C | ENSP00000489895.1:p.Asp87His | |
| ENST00000637272.1:c.259G>C | ENSP00000489686.1:p.Asp87His | |
| ENST00000637782.1:c.259G>C | ENSP00000490024.1:p.Asp87His | |
| ENST00000637964.1:c.205G>C | ENSP00000490291.1:p.Asp69His | |
| ENST00000638008.1:c.*68G>C | ENSP00000490400.1:n.*68G>C | |
| ENST00000409134.7:c.259G>C | ENSP00000387123.3:p.Asp87His | |
| ENST00000412186.1:c.*68G>C | ENSP00000414536.1:n.*68G>C | |
| ENST00000413020.5:c.259G>C | ENSP00000487936.1:p.Asp87His | |
| ENST00000447989.6:c.340G>C | ENSP00000414132.2:p.Asp114His | |
| ENST00000458249.5:c.419G>C | ENSP00000403929.1:n.419G>C | |
| ENST00000479989.5:n.442G>C | ||
| ENST00000503281.5:c.106+2290G>C | ||
| ENST00000509270.1:c.192+2290G>C | ENSP00000449318.1:n.192+2290G>C | |
| ENST00000509459.5:c.65+2290G>C | ||
| ENST00000510111.6:c.253G>C | ENSP00000447388.1:p.Asp85His | |
| ENST00000511266.5:n.214G>C | ||
| ENST00000553117.5:c.259G>C | ENSP00000448593.1:p.Asp87His | |
| NM_001182.4:c.259G>C | NP_001173.2:p.Asp87His | |
| NM_001201377.1:c.175G>C | NP_001188306.1:p.Asp59His | |
| NM_001202404.1:c.340G>C | NP_001189333.1:p.Asp114His | |
| XM_011543417.1:c.-147G>C | XP_011541719.1:n.-147G>C | |
| XM_011543417.2:c.-147G>C | XP_011541719.1:n.-147G>C | |
| NM_001182.5:c.259G>C MANE Select | NP_001173.2:p.Asp87His | |
| NM_001201377.2:c.175G>C | NP_001188306.1:p.Asp59His | |
| NM_001202404.2:c.259G>C | NP_001189333.2:p.Asp87His |