Linked Data
ClinVar Variation Id:
1537526
ClinVar RCV Id:
RCV002166990
dbSNP Id:
rs201989261
ExAC:
20:31024630 C / G
gnomAD v2:
20-31024630-C-G
gnomAD v3:
20-32436827-C-G
gnomAD v4:
20-32436827-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436827C>G , CM000682.2:g.32436827C>G | GRCh38 |
| NC_000020.10:g.31024630C>G , CM000682.1:g.31024630C>G | GRCh37 |
| NC_000020.9:g.30488291C>G | NCBI36 |
| NG_027868.1:g.83484C>G , LRG_630:g.83484C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.4115C>G MANE Select | ENSP00000364839.4:p.Thr1372Ser | |
| ENST00000646985.1:c.3932C>G | ENSP00000495053.1:p.Thr1311Ser | |
| ENST00000647223.1:n.6468C>G | ||
| ENST00000651418.1:c.1870-1603C>G | ENSP00000499150.1:n.1870-1603C>G | |
| ENST00000306058.9:c.4100C>G | ENSP00000305119.5:p.Thr1367Ser | |
| ENST00000375687.8:c.4115C>G | ENSP00000364839.4:p.Thr1372Ser | |
| ENST00000613218.4:c.4115C>G | ENSP00000480487.1:p.Thr1372Ser | |
| ENST00000620121.4:c.4115C>G | ENSP00000481978.1:p.Thr1372Ser | |
| NM_015338.5:c.4115C>G , LRG_630t1:c.4115C>G | NP_056153.2:p.Thr1372Ser | |
| XM_006723727.2:c.4112C>G | XP_006723790.1:p.Thr1371Ser | |
| XM_006723728.2:c.4085C>G | XP_006723791.1:p.Thr1362Ser | |
| XM_006723730.2:c.4031C>G | XP_006723793.1:p.Thr1344Ser | |
| XM_006723732.2:c.3932C>G | XP_006723795.1:p.Thr1311Ser | |
| XM_006723733.1:c.3431C>G | XP_006723796.1:p.Thr1144Ser | |
| XM_011528647.1:c.4379C>G | XP_011526949.1:p.Thr1460Ser | |
| XM_011528648.1:c.4376C>G | XP_011526950.1:p.Thr1459Ser | |
| XM_011528649.1:c.4295C>G | XP_011526951.1:p.Thr1432Ser | |
| XM_011528650.1:c.4226C>G | XP_011526952.1:p.Thr1409Ser | |
| XM_011528651.1:c.4094C>G | XP_011526953.1:p.Thr1365Ser | |
| XM_011528652.1:c.4031C>G | XP_011526954.1:p.Thr1344Ser | |
| NM_001363734.1:c.3932C>G | NP_001350663.1:p.Thr1311Ser | |
| XM_006723727.3:c.4112C>G | XP_006723790.1:p.Thr1371Ser | |
| XM_006723728.3:c.4085C>G | XP_006723791.1:p.Thr1362Ser | |
| XM_006723730.4:c.4031C>G | XP_006723793.1:p.Thr1344Ser | |
| XM_011528648.3:c.4376C>G | XP_011526950.1:p.Thr1459Ser | |
| XM_011528652.2:c.4031C>G | XP_011526954.1:p.Thr1344Ser | |
| XM_017027704.1:c.4031C>G | XP_016883193.1:p.Thr1344Ser | |
| XM_017027705.1:c.4031C>G | XP_016883194.1:p.Thr1344Ser | |
| XM_017027706.1:c.3962C>G | XP_016883195.1:p.Thr1321Ser | |
| NM_015338.6:c.4115C>G MANE Select | NP_056153.2:p.Thr1372Ser |