Linked Data
ClinVar Variation Id:
1922567
ClinVar RCV Id:
RCV002617590
dbSNP Id:
rs748008984
gnomAD v2:
12-21958131-T-C
gnomAD v4:
12-21805197-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21805197T>C , CM000674.2:g.21805197T>C | GRCh38 |
| NC_000012.11:g.21958131T>C , CM000674.1:g.21958131T>C | GRCh37 |
| NC_000012.10:g.21849398T>C | NCBI36 |
| NG_012819.1:g.136498A>G , LRG_377:g.136498A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261201.10:c.4627A>G | ENSP00000261201.4:p.Thr1543Ala | |
| ENST00000682426.1:n.2089+801A>G | ||
| ENST00000682879.1:c.*3610+801A>G | ENSP00000508210.1:n.*3610+801A>G | |
| ENST00000683105.1:c.*536+801A>G | ENSP00000506801.1:n.*536+801A>G | |
| ENST00000683676.1:c.4212-6059A>G | ENSP00000508167.1:n.4212-6059A>G | |
| ENST00000683695.1:n.977+801A>G | ||
| ENST00000684084.1:c.4461+801A>G | ENSP00000507859.1:n.4461+801A>G | |
| ENST00000261200.9:c.4512+801A>G MANE Select | ENSP00000261200.4:n.4512+801A>G | |
| ENST00000261201.9:c.4627A>G | ENSP00000261201.4:p.Thr1543Ala | |
| ENST00000261200.8:c.4512+801A>G | ENSP00000261200.4:n.4512+801A>G | |
| ENST00000261201.8:c.4627A>G | ENSP00000261201.4:p.Thr1543Ala | |
| ENST00000544039.5:c.3508A>G | ENSP00000440521.1:p.Thr1170Ala | |
| NM_005691.3:c.4627A>G | NP_005682.2:p.Thr1543Ala | |
| NM_020297.3:c.4512+801A>G | NP_064693.2:n.4512+801A>G | |
| XM_005253284.2:c.4512+801A>G | XP_005253341.1:n.4512+801A>G | |
| XM_005253286.2:c.4512+801A>G | XP_005253343.1:n.4512+801A>G | |
| XM_005253287.3:c.4627A>G | XP_005253344.1:p.Thr1543Ala | |
| XM_005253288.2:c.4512+801A>G | XP_005253345.1:n.4512+801A>G | |
| XM_005253289.2:c.4473+801A>G | XP_005253346.1:n.4473+801A>G | |
| XM_005253290.2:c.4371+801A>G | XP_005253347.1:n.4371+801A>G | |
| XM_006719025.2:c.4588A>G | XP_006719088.1:p.Thr1530Ala | |
| XM_011520545.1:c.4512+801A>G | XP_011518847.1:n.4512+801A>G | |
| XR_931420.1:n.632-22013T>C | ||
| XR_931421.1:n.632-22013T>C | ||
| XR_931422.1:n.306-22013T>C | ||
| XM_005253284.4:c.4512+801A>G | XP_005253341.1:n.4512+801A>G | |
| XM_005253286.4:c.4512+801A>G | XP_005253343.1:n.4512+801A>G | |
| XM_005253287.5:c.4627A>G | XP_005253344.1:p.Thr1543Ala | |
| XM_005253288.4:c.4512+801A>G | XP_005253345.1:n.4512+801A>G | |
| XM_005253289.4:c.4473+801A>G | XP_005253346.1:n.4473+801A>G | |
| XM_005253290.4:c.4371+801A>G | XP_005253347.1:n.4371+801A>G | |
| XM_006719025.4:c.4588A>G | XP_006719088.1:p.Thr1530Ala | |
| XM_011520545.3:c.4512+801A>G | XP_011518847.1:n.4512+801A>G | |
| XR_931420.3:n.632-22013T>C | ||
| XR_931422.2:n.318-22013T>C | ||
| NM_001377273.1:c.4512+801A>G | NP_001364202.1:n.4512+801A>G | |
| NM_001377274.1:c.3645+801A>G | NP_001364203.1:n.3645+801A>G | |
| NM_005691.4:c.4627A>G | NP_005682.2:p.Thr1543Ala | |
| NM_020297.4:c.4512+801A>G MANE Select | NP_064693.2:n.4512+801A>G |