Linked Data
ClinVar Variation Id:
2048525
ClinVar RCV Id:
RCV002931922
dbSNP Id:
rs1229928635
gnomAD v2:
12-48371417-C-G
gnomAD v4:
12-47977634-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47977634C>G , CM000674.2:g.47977634C>G | GRCh38 |
| NC_000012.11:g.48371417C>G , CM000674.1:g.48371417C>G | GRCh37 |
| NC_000012.10:g.46657684C>G | NCBI36 |
| NG_008072.1:g.31869G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.2924G>C | ENSP00000338213.6:p.Gly975Ala | |
| ENST00000380518.8:c.3131G>C MANE Select | ENSP00000369889.3:p.Gly1044Ala | |
| ENST00000337299.6:c.2924G>C | ENSP00000338213.6:p.Gly975Ala | |
| ENST00000380518.7:c.3131G>C | ENSP00000369889.3:p.Gly1044Ala | |
| ENST00000493991.5:n.2217G>C | ||
| NM_001844.4:c.3131G>C | NP_001835.3:p.Gly1044Ala | |
| NM_033150.2:c.2924G>C | NP_149162.2:p.Gly975Ala | |
| XM_006719242.2:c.3275G>C | XP_006719305.2:p.Gly1092Ala | |
| XM_011537928.1:c.3275G>C | XP_011536230.1:p.Gly1092Ala | |
| XM_011537929.1:c.3275G>C | XP_011536231.1:p.Gly1092Ala | |
| XM_011537930.1:c.3275G>C | XP_011536232.1:p.Gly1092Ala | |
| XM_011537931.1:c.3275G>C | XP_011536233.1:p.Gly1092Ala | |
| XM_011537932.1:c.3275G>C | XP_011536234.1:p.Gly1092Ala | |
| XM_011537933.1:c.3275G>C | XP_011536235.1:p.Gly1092Ala | |
| XM_011537934.1:c.3272G>C | XP_011536236.1:p.Gly1091Ala | |
| XM_011537935.1:c.2219G>C | XP_011536237.1:p.Gly740Ala | |
| XM_017018828.1:c.3275G>C | XP_016874317.1:p.Gly1092Ala | |
| XM_017018829.1:c.3272G>C | XP_016874318.1:p.Gly1091Ala | |
| XM_017018830.1:c.3065G>C | XP_016874319.1:p.Gly1022Ala | |
| XM_017018831.2:c.2585G>C | XP_016874320.1:p.Gly862Ala | |
| NM_001844.5:c.3131G>C MANE Select | NP_001835.3:p.Gly1044Ala | |
| NM_033150.3:c.2924G>C | NP_149162.2:p.Gly975Ala |