Linked Data
ClinVar Variation Id:
1775942
ClinVar RCV Id:
RCV002398459
dbSNP Id:
rs1054446244
gnomAD v3:
12-21906152-G-C
gnomAD v4:
12-21906152-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21906152G>C , CM000674.2:g.21906152G>C | GRCh38 |
| NC_000012.11:g.22059086G>C , CM000674.1:g.22059086G>C | GRCh37 |
| NC_000012.10:g.21950353G>C | NCBI36 |
| NG_012819.1:g.35543C>G , LRG_377:g.35543C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.1592C>G | ENSP00000261201.4:p.Thr531Ser | |
| ENST00000682068.1:c.1592C>G | ENSP00000507226.1:p.Thr531Ser | |
| ENST00000682789.1:n.1843C>G | ||
| ENST00000682879.1:c.*693C>G | ENSP00000508210.1:n.*693C>G | |
| ENST00000683105.1:c.1592C>G | ENSP00000506801.1:p.Thr531Ser | |
| ENST00000683676.1:c.1592C>G | ENSP00000508167.1:p.Thr531Ser | |
| ENST00000684084.1:c.1592C>G | ENSP00000507859.1:p.Thr531Ser | |
| ENST00000684543.1:n.1937C>G | ||
| ENST00000261200.9:c.1592C>G MANE Select | ENSP00000261200.4:p.Thr531Ser | |
| ENST00000261201.9:c.1592C>G | ENSP00000261201.4:p.Thr531Ser | |
| ENST00000261200.8:c.1592C>G | ENSP00000261200.4:p.Thr531Ser | |
| ENST00000261201.8:c.1592C>G | ENSP00000261201.4:p.Thr531Ser | |
| ENST00000544039.5:c.581C>G | ENSP00000440521.1:p.Thr194Ser | |
| NM_005691.3:c.1592C>G | NP_005682.2:p.Thr531Ser | |
| NM_020297.3:c.1592C>G | NP_064693.2:p.Thr531Ser | |
| XM_005253284.2:c.1592C>G | XP_005253341.1:p.Thr531Ser | |
| XM_005253286.2:c.1592C>G | XP_005253343.1:p.Thr531Ser | |
| XM_005253287.3:c.1592C>G | XP_005253344.1:p.Thr531Ser | |
| XM_005253288.2:c.1592C>G | XP_005253345.1:p.Thr531Ser | |
| XM_005253289.2:c.1592C>G | XP_005253346.1:p.Thr531Ser | |
| XM_005253290.2:c.1592C>G | XP_005253347.1:p.Thr531Ser | |
| XM_006719025.2:c.1592C>G | XP_006719088.1:p.Thr531Ser | |
| XM_011520545.1:c.1592C>G | XP_011518847.1:p.Thr531Ser | |
| XM_005253284.4:c.1592C>G | XP_005253341.1:p.Thr531Ser | |
| XM_005253286.4:c.1592C>G | XP_005253343.1:p.Thr531Ser | |
| XM_005253287.5:c.1592C>G | XP_005253344.1:p.Thr531Ser | |
| XM_005253288.4:c.1592C>G | XP_005253345.1:p.Thr531Ser | |
| XM_005253289.4:c.1592C>G | XP_005253346.1:p.Thr531Ser | |
| XM_005253290.4:c.1592C>G | XP_005253347.1:p.Thr531Ser | |
| XM_006719025.4:c.1592C>G | XP_006719088.1:p.Thr531Ser | |
| XM_011520545.3:c.1592C>G | XP_011518847.1:p.Thr531Ser | |
| NM_001377273.1:c.1592C>G | NP_001364202.1:p.Thr531Ser | |
| NM_001377274.1:c.728C>G | NP_001364203.1:p.Thr243Ser | |
| NM_005691.4:c.1592C>G | NP_005682.2:p.Thr531Ser | |
| NM_020297.4:c.1592C>G MANE Select | NP_064693.2:p.Thr531Ser |