Linked Data
ClinVar Variation Id:
1704126
dbSNP Id:
rs1036483919
gnomAD v2:
7-44190649-A-G
gnomAD v4:
7-44151050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44151050A>G , CM000669.2:g.44151050A>G | GRCh38 |
| NC_000007.13:g.44190649A>G , CM000669.1:g.44190649A>G | GRCh37 |
| NC_000007.12:g.44157174A>G | NCBI36 |
| NG_008847.1:g.43374T>C | |
| NG_008847.2:g.52121T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*387T>C | ENSP00000379142.4:n.*387T>C | |
| ENST00000616242.5:c.389T>C | ENSP00000482149.2:p.Ile130Thr | |
| ENST00000682635.1:n.875T>C | ||
| ENST00000345378.7:c.392T>C | ENSP00000223366.2:p.Ile131Thr | |
| ENST00000403799.8:c.389T>C MANE Select | ENSP00000384247.3:p.Ile130Thr | |
| ENST00000671824.1:c.389T>C | ENSP00000500264.1:p.Ile130Thr | |
| ENST00000673284.1:c.389T>C | ENSP00000499852.1:p.Ile130Thr | |
| ENST00000345378.6:c.392T>C | ENSP00000223366.2:p.Ile131Thr | |
| ENST00000395796.7:c.386T>C | ENSP00000379142.3:p.Ile129Thr | |
| ENST00000403799.7:c.389T>C | ENSP00000384247.3:p.Ile130Thr | |
| ENST00000437084.1:c.364-26T>C | ENSP00000402840.1:n.364-26T>C | |
| ENST00000616242.4:c.386T>C | ENSP00000482149.1:p.Ile129Thr | |
| NM_000162.3:c.389T>C | NP_000153.1:p.Ile130Thr | |
| NM_033507.1:c.392T>C | NP_277042.1:p.Ile131Thr | |
| NM_033508.1:c.386T>C | NP_277043.1:p.Ile129Thr | |
| NM_000162.4:c.389T>C | NP_000153.1:p.Ile130Thr | |
| NM_001354800.1:c.389T>C | NP_001341729.1:p.Ile130Thr | |
| NM_033507.2:c.392T>C | NP_277042.1:p.Ile131Thr | |
| NM_033508.2:c.386T>C | NP_277043.1:p.Ile129Thr | |
| NM_000162.5:c.389T>C MANE Select | NP_000153.1:p.Ile130Thr | |
| NM_033507.3:c.392T>C | NP_277042.1:p.Ile131Thr | |
| NM_033508.3:c.386T>C | NP_277043.1:p.Ile129Thr |