Linked Data
ClinVar Variation Id:
127727
ClinVar RCV Id:
RCV000115623
RCV000200663
RCV000417370
RCV000586474
RCV001357201
RCV003492477
RCV003891611
dbSNP Id:
rs147215925
ExAC:
2:215595159 T / C
gnomAD v2:
2-215595159-T-C
gnomAD v3:
2-214730435-T-C
gnomAD v4:
2-214730435-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730435T>C , CM000664.2:g.214730435T>C | GRCh38 |
| NC_000002.11:g.215595159T>C , CM000664.1:g.215595159T>C | GRCh37 |
| NC_000002.10:g.215303404T>C | NCBI36 |
| NG_012047.2:g.84270A>G | |
| NG_012047.3:g.84277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1977A>G MANE Select | ENSP00000260947.4:p.Arg659= | |
| ENST00000421162.2:c.624A>G | ENSP00000392245.2:p.Arg208= | |
| ENST00000613192.2:c.*40A>G | ENSP00000483275.2:n.*40A>G | |
| ENST00000613374.5:c.567A>G | ENSP00000484464.1:p.Arg189= | |
| ENST00000613706.5:c.1569A>G | ENSP00000484976.2:p.Arg523= | |
| ENST00000617164.5:c.1920A>G | ENSP00000480470.1:p.Arg640= | |
| ENST00000619009.5:c.438A>G | ENSP00000482293.1:p.Arg146= | |
| ENST00000650978.1:c.3352A>G | ||
| ENST00000260947.8:c.1977A>G | ENSP00000260947.4:p.Arg659= | |
| ENST00000421162.1:c.624A>G | ENSP00000392245.1:p.Arg208= | |
| ENST00000432456.5:c.74A>G | ||
| ENST00000455743.5:c.*1597A>G | ENSP00000412186.1:n.*1597A>G | |
| ENST00000471590.5:n.312A>G | ||
| ENST00000613192.1:c.147A>G | ENSP00000483275.1:p.Arg49= | |
| ENST00000613374.4:c.567A>G | ENSP00000484464.1:p.Arg189= | |
| ENST00000613706.4:c.624A>G | ENSP00000484976.1:p.Arg208= | |
| ENST00000617164.4:c.1920A>G | ENSP00000480470.1:p.Arg640= | |
| ENST00000619009.4:c.438A>G | ENSP00000482293.1:p.Arg146= | |
| ENST00000620057.4:c.*643A>G | ENSP00000481988.1:n.*643A>G | |
| NM_000465.3:c.1977A>G | NP_000456.2:p.Arg659= | |
| NM_001282543.1:c.1920A>G | NP_001269472.1:p.Arg640= | |
| NM_001282545.1:c.624A>G | NP_001269474.1:p.Arg208= | |
| NM_001282548.1:c.567A>G | NP_001269477.1:p.Arg189= | |
| NM_001282549.1:c.438A>G | NP_001269478.1:p.Arg146= | |
| NR_104212.1:n.1970A>G | ||
| NR_104215.1:n.1913A>G | ||
| NR_104216.1:n.1169A>G | ||
| XM_011511567.1:c.1923A>G | XP_011509869.1:p.Arg641= | |
| XM_017004613.1:c.2076A>G | XP_016860102.1:p.Arg692= | |
| XR_002959322.1:n.2167A>G | ||
| NM_000465.4:c.1977A>G MANE Select | NP_000456.2:p.Arg659= | |
| NM_001282543.2:c.1920A>G | NP_001269472.1:p.Arg640= | |
| NM_001282545.2:c.624A>G | NP_001269474.1:p.Arg208= | |
| NM_001282548.2:c.567A>G | NP_001269477.1:p.Arg189= | |
| NM_001282549.2:c.438A>G | NP_001269478.1:p.Arg146= | |
| NR_104212.2:n.1942A>G | ||
| NR_104215.2:n.1885A>G | ||
| NR_104216.2:n.1141A>G |