Linked Data
ClinVar Variation Id:
241738
dbSNP Id:
rs143936557
ExAC:
3:10076416 T / C
gnomAD v2:
3-10076416-T-C
gnomAD v3:
3-10034732-T-C
gnomAD v4:
3-10034732-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10034732T>C , CM000665.2:g.10034732T>C | GRCh38 |
| NC_000003.11:g.10076416T>C , CM000665.1:g.10076416T>C | GRCh37 |
| NC_000003.10:g.10051416T>C | NCBI36 |
| NG_007311.1:g.13304T>C , LRG_306:g.13304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682647.1:c.*319T>C | ENSP00000506736.1:n.*319T>C | |
| ENST00000675286.1:c.311T>C MANE Select | ENSP00000502379.1:p.Ile104Thr | |
| ENST00000676013.1:c.311T>C | ENSP00000501999.1:p.Ile104Thr | |
| ENST00000287647.7:c.311T>C | ENSP00000287647.3:p.Ile104Thr | |
| ENST00000383807.5:c.311T>C | ENSP00000373318.1:p.Ile104Thr | |
| ENST00000419585.5:c.311T>C | ENSP00000398754.1:p.Ile104Thr | |
| ENST00000431693.1:c.311T>C | ENSP00000399354.1:p.Ile104Thr | |
| ENST00000438741.1:n.26T>C | ||
| NM_001018115.1:c.311T>C , LRG_306t1:c.311T>C | NP_001018125.1:p.Ile104Thr | |
| NM_033084.3:c.311T>C , LRG_306t2:c.311T>C | NP_149075.2:p.Ile104Thr | |
| XM_005264946.2:c.311T>C | XP_005265003.1:p.Ile104Thr | |
| XM_006713021.2:c.311T>C | XP_006713084.1:p.Ile104Thr | |
| XM_006713023.2:c.311T>C | XP_006713086.1:p.Ile104Thr | |
| XM_006713024.2:c.311T>C | XP_006713087.1:p.Ile104Thr | |
| XM_011533479.1:c.311T>C | XP_011531781.1:p.Ile104Thr | |
| XR_940391.1:n.431T>C | ||
| NM_001018115.2:c.311T>C | NP_001018125.1:p.Ile104Thr | |
| NM_001319984.1:c.311T>C | NP_001306913.1:p.Ile104Thr | |
| NM_033084.4:c.311T>C | NP_149075.2:p.Ile104Thr | |
| NM_001018115.3:c.311T>C MANE Select | NP_001018125.1:p.Ile104Thr | |
| NM_001319984.2:c.311T>C | NP_001306913.1:p.Ile104Thr | |
| NM_001374253.1:c.311T>C | NP_001361182.1:p.Ile104Thr | |
| NM_001374254.1:c.311T>C | NP_001361183.1:p.Ile104Thr | |
| NM_001374255.1:c.311T>C | NP_001361184.1:p.Ile104Thr | |
| NM_033084.6:c.311T>C | NP_149075.2:p.Ile104Thr |