Linked Data
ClinVar Variation Id:
820413
ClinVar RCV Id:
RCV001013839
dbSNP Id:
rs2228455
gnomAD v4:
2-214730455-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730455T>C , CM000664.2:g.214730455T>C | GRCh38 |
| NC_000002.11:g.215595179T>C , CM000664.1:g.215595179T>C | GRCh37 |
| NC_000002.10:g.215303424T>C | NCBI36 |
| NG_012047.2:g.84250A>G | |
| NG_012047.3:g.84257A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1957A>G MANE Select | ENSP00000260947.4:p.Ile653Val | |
| ENST00000421162.2:c.604A>G | ENSP00000392245.2:p.Ile202Val | |
| ENST00000613192.2:c.*20A>G | ENSP00000483275.2:n.*20A>G | |
| ENST00000613374.5:c.547A>G | ENSP00000484464.1:p.Ile183Val | |
| ENST00000613706.5:c.1549A>G | ENSP00000484976.2:p.Ile517Val | |
| ENST00000617164.5:c.1900A>G | ENSP00000480470.1:p.Ile634Val | |
| ENST00000619009.5:c.418A>G | ENSP00000482293.1:p.Ile140Val | |
| ENST00000650978.1:c.3332A>G | ||
| ENST00000260947.8:c.1957A>G | ENSP00000260947.4:p.Ile653Val | |
| ENST00000421162.1:c.604A>G | ENSP00000392245.1:p.Ile202Val | |
| ENST00000432456.5:c.54A>G | ||
| ENST00000455743.5:c.*1577A>G | ENSP00000412186.1:n.*1577A>G | |
| ENST00000471590.5:n.292A>G | ||
| ENST00000613192.1:c.127A>G | ENSP00000483275.1:p.Ile43Val | |
| ENST00000613374.4:c.547A>G | ENSP00000484464.1:p.Ile183Val | |
| ENST00000613706.4:c.604A>G | ENSP00000484976.1:p.Ile202Val | |
| ENST00000617164.4:c.1900A>G | ENSP00000480470.1:p.Ile634Val | |
| ENST00000619009.4:c.418A>G | ENSP00000482293.1:p.Ile140Val | |
| ENST00000620057.4:c.*623A>G | ENSP00000481988.1:n.*623A>G | |
| NM_000465.3:c.1957A>G | NP_000456.2:p.Ile653Val | |
| NM_001282543.1:c.1900A>G | NP_001269472.1:p.Ile634Val | |
| NM_001282545.1:c.604A>G | NP_001269474.1:p.Ile202Val | |
| NM_001282548.1:c.547A>G | NP_001269477.1:p.Ile183Val | |
| NM_001282549.1:c.418A>G | NP_001269478.1:p.Ile140Val | |
| NR_104212.1:n.1950A>G | ||
| NR_104215.1:n.1893A>G | ||
| NR_104216.1:n.1149A>G | ||
| XM_011511567.1:c.1903A>G | XP_011509869.1:p.Ile635Val | |
| XM_017004613.1:c.2056A>G | XP_016860102.1:p.Ile686Val | |
| XR_002959322.1:n.2147A>G | ||
| NM_000465.4:c.1957A>G MANE Select | NP_000456.2:p.Ile653Val | |
| NM_001282543.2:c.1900A>G | NP_001269472.1:p.Ile634Val | |
| NM_001282545.2:c.604A>G | NP_001269474.1:p.Ile202Val | |
| NM_001282548.2:c.547A>G | NP_001269477.1:p.Ile183Val | |
| NM_001282549.2:c.418A>G | NP_001269478.1:p.Ile140Val | |
| NR_104212.2:n.1922A>G | ||
| NR_104215.2:n.1865A>G | ||
| NR_104216.2:n.1121A>G |