Linked Data
ClinVar Variation Id:
30185
dbSNP Id:
rs387906805
gnomAD v4:
12-21805184-G-A
PubMed:
PMID:17245405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21805184G>A , CM000674.2:g.21805184G>A | GRCh38 |
| NC_000012.11:g.21958118G>A , CM000674.1:g.21958118G>A | GRCh37 |
| NC_000012.10:g.21849385G>A | NCBI36 |
| NG_012819.1:g.136511C>T , LRG_377:g.136511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.4640C>T | ENSP00000261201.4:p.Thr1547Ile | |
| ENST00000682426.1:n.2089+814C>T | ||
| ENST00000682879.1:c.*3610+814C>T | ENSP00000508210.1:n.*3610+814C>T | |
| ENST00000683105.1:c.*536+814C>T | ENSP00000506801.1:n.*536+814C>T | |
| ENST00000683676.1:c.4212-6046C>T | ENSP00000508167.1:n.4212-6046C>T | |
| ENST00000683695.1:n.977+814C>T | ||
| ENST00000684084.1:c.4461+814C>T | ENSP00000507859.1:n.4461+814C>T | |
| ENST00000261200.9:c.4512+814C>T MANE Select | ENSP00000261200.4:n.4512+814C>T | |
| ENST00000261201.9:c.4640C>T | ENSP00000261201.4:p.Thr1547Ile | |
| ENST00000261200.8:c.4512+814C>T | ENSP00000261200.4:n.4512+814C>T | |
| ENST00000261201.8:c.4640C>T | ENSP00000261201.4:p.Thr1547Ile | |
| ENST00000544039.5:c.3521C>T | ENSP00000440521.1:p.Thr1174Ile | |
| NM_005691.3:c.4640C>T | NP_005682.2:p.Thr1547Ile | |
| NM_020297.3:c.4512+814C>T | NP_064693.2:n.4512+814C>T | |
| XM_005253284.2:c.4512+814C>T | XP_005253341.1:n.4512+814C>T | |
| XM_005253286.2:c.4512+814C>T | XP_005253343.1:n.4512+814C>T | |
| XM_005253287.3:c.4640C>T | XP_005253344.1:p.Thr1547Ile | |
| XM_005253288.2:c.4512+814C>T | XP_005253345.1:n.4512+814C>T | |
| XM_005253289.2:c.4473+814C>T | XP_005253346.1:n.4473+814C>T | |
| XM_005253290.2:c.4371+814C>T | XP_005253347.1:n.4371+814C>T | |
| XM_006719025.2:c.4601C>T | XP_006719088.1:p.Thr1534Ile | |
| XM_011520545.1:c.4512+814C>T | XP_011518847.1:n.4512+814C>T | |
| XR_931420.1:n.632-22026G>A | ||
| XR_931421.1:n.632-22026G>A | ||
| XR_931422.1:n.306-22026G>A | ||
| XM_005253284.4:c.4512+814C>T | XP_005253341.1:n.4512+814C>T | |
| XM_005253286.4:c.4512+814C>T | XP_005253343.1:n.4512+814C>T | |
| XM_005253287.5:c.4640C>T | XP_005253344.1:p.Thr1547Ile | |
| XM_005253288.4:c.4512+814C>T | XP_005253345.1:n.4512+814C>T | |
| XM_005253289.4:c.4473+814C>T | XP_005253346.1:n.4473+814C>T | |
| XM_005253290.4:c.4371+814C>T | XP_005253347.1:n.4371+814C>T | |
| XM_006719025.4:c.4601C>T | XP_006719088.1:p.Thr1534Ile | |
| XM_011520545.3:c.4512+814C>T | XP_011518847.1:n.4512+814C>T | |
| XR_931420.3:n.632-22026G>A | ||
| XR_931422.2:n.318-22026G>A | ||
| NM_001377273.1:c.4512+814C>T | NP_001364202.1:n.4512+814C>T | |
| NM_001377274.1:c.3645+814C>T | NP_001364203.1:n.3645+814C>T | |
| NM_005691.4:c.4640C>T | NP_005682.2:p.Thr1547Ile | |
| NM_020297.4:c.4512+814C>T MANE Select | NP_064693.2:n.4512+814C>T |