Linked Data
ClinVar Variation Id:
820414
ClinVar RCV Id:
RCV001013842
dbSNP Id:
rs1574706961
gnomAD v4:
2-214730454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730454A>G , CM000664.2:g.214730454A>G | GRCh38 |
| NC_000002.11:g.215595178A>G , CM000664.1:g.215595178A>G | GRCh37 |
| NC_000002.10:g.215303423A>G | NCBI36 |
| NG_012047.2:g.84251T>C | |
| NG_012047.3:g.84258T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1958T>C MANE Select | ENSP00000260947.4:p.Ile653Thr | |
| ENST00000421162.2:c.605T>C | ENSP00000392245.2:p.Ile202Thr | |
| ENST00000613192.2:c.*21T>C | ENSP00000483275.2:n.*21T>C | |
| ENST00000613374.5:c.548T>C | ENSP00000484464.1:p.Ile183Thr | |
| ENST00000613706.5:c.1550T>C | ENSP00000484976.2:p.Ile517Thr | |
| ENST00000617164.5:c.1901T>C | ENSP00000480470.1:p.Ile634Thr | |
| ENST00000619009.5:c.419T>C | ENSP00000482293.1:p.Ile140Thr | |
| ENST00000650978.1:c.3333T>C | ||
| ENST00000260947.8:c.1958T>C | ENSP00000260947.4:p.Ile653Thr | |
| ENST00000421162.1:c.605T>C | ENSP00000392245.1:p.Ile202Thr | |
| ENST00000432456.5:c.55T>C | ||
| ENST00000455743.5:c.*1578T>C | ENSP00000412186.1:n.*1578T>C | |
| ENST00000471590.5:n.293T>C | ||
| ENST00000613192.1:c.128T>C | ENSP00000483275.1:p.Ile43Thr | |
| ENST00000613374.4:c.548T>C | ENSP00000484464.1:p.Ile183Thr | |
| ENST00000613706.4:c.605T>C | ENSP00000484976.1:p.Ile202Thr | |
| ENST00000617164.4:c.1901T>C | ENSP00000480470.1:p.Ile634Thr | |
| ENST00000619009.4:c.419T>C | ENSP00000482293.1:p.Ile140Thr | |
| ENST00000620057.4:c.*624T>C | ENSP00000481988.1:n.*624T>C | |
| NM_000465.3:c.1958T>C | NP_000456.2:p.Ile653Thr | |
| NM_001282543.1:c.1901T>C | NP_001269472.1:p.Ile634Thr | |
| NM_001282545.1:c.605T>C | NP_001269474.1:p.Ile202Thr | |
| NM_001282548.1:c.548T>C | NP_001269477.1:p.Ile183Thr | |
| NM_001282549.1:c.419T>C | NP_001269478.1:p.Ile140Thr | |
| NR_104212.1:n.1951T>C | ||
| NR_104215.1:n.1894T>C | ||
| NR_104216.1:n.1150T>C | ||
| XM_011511567.1:c.1904T>C | XP_011509869.1:p.Ile635Thr | |
| XM_017004613.1:c.2057T>C | XP_016860102.1:p.Ile686Thr | |
| XR_002959322.1:n.2148T>C | ||
| NM_000465.4:c.1958T>C MANE Select | NP_000456.2:p.Ile653Thr | |
| NM_001282543.2:c.1901T>C | NP_001269472.1:p.Ile634Thr | |
| NM_001282545.2:c.605T>C | NP_001269474.1:p.Ile202Thr | |
| NM_001282548.2:c.548T>C | NP_001269477.1:p.Ile183Thr | |
| NM_001282549.2:c.419T>C | NP_001269478.1:p.Ile140Thr | |
| NR_104212.2:n.1923T>C | ||
| NR_104215.2:n.1866T>C | ||
| NR_104216.2:n.1122T>C |