Linked Data
ClinVar Variation Id:
1373512
ClinVar RCV Id:
RCV001900388
dbSNP Id:
rs2112746220
gnomAD v4:
5-126546370-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126546370C>G , CM000667.2:g.126546370C>G | GRCh38 |
| NC_000005.9:g.125882062C>G , CM000667.1:g.125882062C>G | GRCh37 |
| NC_000005.8:g.125909961C>G | NCBI36 |
| NG_008600.2:g.54021G>C | |
| NG_008600.3:g.54021G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1519G>C MANE Select | ENSP00000387123.3:p.Glu507Gln | |
| ENST00000458249.6:c.*1428G>C | ENSP00000403929.1:n.*1428G>C | |
| ENST00000485852.7:n.266G>C | ||
| ENST00000497231.7:n.1946G>C | ||
| ENST00000635851.1:c.1517G>C | ||
| ENST00000636225.1:c.*1463G>C | ENSP00000490797.1:n.*1463G>C | |
| ENST00000636286.1:n.1284G>C | ||
| ENST00000636482.1:n.1053G>C | ||
| ENST00000636743.1:c.1399G>C | ENSP00000489725.1:p.Glu467Gln | |
| ENST00000636808.1:c.*1328G>C | ENSP00000490833.1:n.*1328G>C | |
| ENST00000636872.1:c.1679G>C | ENSP00000490919.1:n.1679G>C | |
| ENST00000636879.1:c.1564G>C | ENSP00000490811.1:p.Glu522Gln | |
| ENST00000636886.1:c.1318G>C | ENSP00000490371.1:p.Glu440Gln | |
| ENST00000637206.1:c.1339G>C | ENSP00000489895.1:p.Glu447Gln | |
| ENST00000637272.1:c.1510G>C | ENSP00000489686.1:p.Glu504Gln | |
| ENST00000637292.1:c.975G>C | ||
| ENST00000637782.1:c.1519G>C | ENSP00000490024.1:p.Glu507Gln | |
| ENST00000638008.1:c.*1363G>C | ENSP00000490400.1:n.*1363G>C | |
| ENST00000638010.1:n.1465G>C | ||
| ENST00000409134.7:c.1519G>C | ENSP00000387123.3:p.Glu507Gln | |
| ENST00000447989.6:c.1408G>C | ENSP00000414132.2:p.Glu470Gln | |
| ENST00000485852.6:n.266G>C | ||
| ENST00000497231.6:n.1729G>C | ||
| ENST00000553117.5:c.1327G>C | ENSP00000448593.1:p.Glu443Gln | |
| NM_001182.4:c.1519G>C | NP_001173.2:p.Glu507Gln | |
| NM_001201377.1:c.1435G>C | NP_001188306.1:p.Glu479Gln | |
| NM_001202404.1:c.1408G>C | NP_001189333.1:p.Glu470Gln | |
| XM_011543417.1:c.1114G>C | XP_011541719.1:p.Glu372Gln | |
| XM_011543417.2:c.1114G>C | XP_011541719.1:p.Glu372Gln | |
| NM_001182.5:c.1519G>C MANE Select | NP_001173.2:p.Glu507Gln | |
| NM_001201377.2:c.1435G>C | NP_001188306.1:p.Glu479Gln | |
| NM_001202404.2:c.1327G>C | NP_001189333.2:p.Glu443Gln |