Linked Data
ClinVar Variation Id:
943476
ClinVar RCV Id:
RCV001213670
dbSNP Id:
rs1938534876
gnomAD v4:
12-47973462-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47973462A>G , CM000674.2:g.47973462A>G | GRCh38 |
| NC_000012.11:g.48367245A>G , CM000674.1:g.48367245A>G | GRCh37 |
| NC_000012.10:g.46653512A>G | NCBI36 |
| NG_008072.1:g.36041T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.4202T>C | ENSP00000338213.6:p.Ile1401Thr | |
| ENST00000380518.8:c.4409T>C MANE Select | ENSP00000369889.3:p.Ile1470Thr | |
| ENST00000337299.6:c.4202T>C | ENSP00000338213.6:p.Ile1401Thr | |
| ENST00000380518.7:c.4409T>C | ENSP00000369889.3:p.Ile1470Thr | |
| ENST00000493991.5:n.3495T>C | ||
| NM_001844.4:c.4409T>C | NP_001835.3:p.Ile1470Thr | |
| NM_033150.2:c.4202T>C | NP_149162.2:p.Ile1401Thr | |
| XM_006719242.2:c.4553T>C | XP_006719305.2:p.Ile1518Thr | |
| XM_011537928.1:c.4553T>C | XP_011536230.1:p.Ile1518Thr | |
| XM_011537929.1:c.4553T>C | XP_011536231.1:p.Ile1518Thr | |
| XM_011537930.1:c.4553T>C | XP_011536232.1:p.Ile1518Thr | |
| XM_011537931.1:c.4553T>C | XP_011536233.1:p.Ile1518Thr | |
| XM_011537932.1:c.4553T>C | XP_011536234.1:p.Ile1518Thr | |
| XM_011537933.1:c.4553T>C | XP_011536235.1:p.Ile1518Thr | |
| XM_011537934.1:c.4550T>C | XP_011536236.1:p.Ile1517Thr | |
| XM_011537935.1:c.3497T>C | XP_011536237.1:p.Ile1166Thr | |
| XM_017018828.1:c.4553T>C | XP_016874317.1:p.Ile1518Thr | |
| XM_017018829.1:c.4550T>C | XP_016874318.1:p.Ile1517Thr | |
| XM_017018830.1:c.4343T>C | XP_016874319.1:p.Ile1448Thr | |
| XM_017018831.2:c.3863T>C | XP_016874320.1:p.Ile1288Thr | |
| NM_001844.5:c.4409T>C MANE Select | NP_001835.3:p.Ile1470Thr | |
| NM_033150.3:c.4202T>C | NP_149162.2:p.Ile1401Thr |