Linked Data
ClinVar Variation Id:
2984753
ClinVar RCV Id:
RCV003845896
dbSNP Id:
rs1938571131
gnomAD v3:
12-47974091-T-C
gnomAD v4:
12-47974091-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47974091T>C , CM000674.2:g.47974091T>C | GRCh38 |
| NC_000012.11:g.48367874T>C , CM000674.1:g.48367874T>C | GRCh37 |
| NC_000012.10:g.46654141T>C | NCBI36 |
| NG_008072.1:g.35412A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.4108A>G | ENSP00000338213.6:p.Thr1370Ala | |
| ENST00000380518.8:c.4315A>G MANE Select | ENSP00000369889.3:p.Thr1439Ala | |
| ENST00000337299.6:c.4108A>G | ENSP00000338213.6:p.Thr1370Ala | |
| ENST00000380518.7:c.4315A>G | ENSP00000369889.3:p.Thr1439Ala | |
| ENST00000493991.5:n.3401A>G | ||
| NM_001844.4:c.4315A>G | NP_001835.3:p.Thr1439Ala | |
| NM_033150.2:c.4108A>G | NP_149162.2:p.Thr1370Ala | |
| XM_006719242.2:c.4459A>G | XP_006719305.2:p.Thr1487Ala | |
| XM_011537928.1:c.4459A>G | XP_011536230.1:p.Thr1487Ala | |
| XM_011537929.1:c.4459A>G | XP_011536231.1:p.Thr1487Ala | |
| XM_011537930.1:c.4459A>G | XP_011536232.1:p.Thr1487Ala | |
| XM_011537931.1:c.4459A>G | XP_011536233.1:p.Thr1487Ala | |
| XM_011537932.1:c.4459A>G | XP_011536234.1:p.Thr1487Ala | |
| XM_011537933.1:c.4459A>G | XP_011536235.1:p.Thr1487Ala | |
| XM_011537934.1:c.4456A>G | XP_011536236.1:p.Thr1486Ala | |
| XM_011537935.1:c.3403A>G | XP_011536237.1:p.Thr1135Ala | |
| XM_017018828.1:c.4459A>G | XP_016874317.1:p.Thr1487Ala | |
| XM_017018829.1:c.4456A>G | XP_016874318.1:p.Thr1486Ala | |
| XM_017018830.1:c.4249A>G | XP_016874319.1:p.Thr1417Ala | |
| XM_017018831.2:c.3769A>G | XP_016874320.1:p.Thr1257Ala | |
| NM_001844.5:c.4315A>G MANE Select | NP_001835.3:p.Thr1439Ala | |
| NM_033150.3:c.4108A>G | NP_149162.2:p.Thr1370Ala |