Linked Data
ClinVar Variation Id:
482803
dbSNP Id:
rs1318628468
gnomAD v2:
2-215593459-G-A
gnomAD v4:
2-214728735-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728735G>A , CM000664.2:g.214728735G>A | GRCh38 |
| NC_000002.11:g.215593459G>A , CM000664.1:g.215593459G>A | GRCh37 |
| NC_000002.10:g.215301704G>A | NCBI36 |
| NG_012047.2:g.85970C>T | |
| NG_012047.3:g.85977C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2275C>T MANE Select | ENSP00000260947.4:p.Pro759Ser | |
| ENST00000421162.2:c.922C>T | ENSP00000392245.2:p.Pro308Ser | |
| ENST00000613192.2:c.*338C>T | ENSP00000483275.2:n.*338C>T | |
| ENST00000613374.5:c.865C>T | ENSP00000484464.1:p.Pro289Ser | |
| ENST00000613706.5:c.1867C>T | ENSP00000484976.2:p.Pro623Ser | |
| ENST00000617164.5:c.2218C>T | ENSP00000480470.1:p.Pro740Ser | |
| ENST00000619009.5:c.736C>T | ENSP00000482293.1:p.Pro246Ser | |
| ENST00000650978.1:c.3650C>T | ||
| ENST00000260947.8:c.2275C>T | ENSP00000260947.4:p.Pro759Ser | |
| ENST00000432456.5:c.418C>T | ||
| ENST00000455743.5:c.*1895C>T | ENSP00000412186.1:n.*1895C>T | |
| ENST00000471590.5:n.610C>T | ||
| ENST00000613192.1:c.445C>T | ENSP00000483275.1:p.Pro149Ser | |
| ENST00000613374.4:c.865C>T | ENSP00000484464.1:p.Pro289Ser | |
| ENST00000613706.4:c.922C>T | ENSP00000484976.1:p.Pro308Ser | |
| ENST00000617164.4:c.2218C>T | ENSP00000480470.1:p.Pro740Ser | |
| ENST00000619009.4:c.736C>T | ENSP00000482293.1:p.Pro246Ser | |
| ENST00000620057.4:c.*941C>T | ENSP00000481988.1:n.*941C>T | |
| NM_000465.3:c.2275C>T | NP_000456.2:p.Pro759Ser | |
| NM_001282543.1:c.2218C>T | NP_001269472.1:p.Pro740Ser | |
| NM_001282545.1:c.922C>T | NP_001269474.1:p.Pro308Ser | |
| NM_001282548.1:c.865C>T | NP_001269477.1:p.Pro289Ser | |
| NM_001282549.1:c.736C>T | NP_001269478.1:p.Pro246Ser | |
| NR_104212.1:n.2268C>T | ||
| NR_104215.1:n.2211C>T | ||
| NR_104216.1:n.1467C>T | ||
| XM_011511567.1:c.2221C>T | XP_011509869.1:p.Pro741Ser | |
| XM_017004613.1:c.2374C>T | XP_016860102.1:p.Pro792Ser | |
| XR_002959322.1:n.2641C>T | ||
| NM_000465.4:c.2275C>T MANE Select | NP_000456.2:p.Pro759Ser | |
| NM_001282543.2:c.2218C>T | NP_001269472.1:p.Pro740Ser | |
| NM_001282545.2:c.922C>T | NP_001269474.1:p.Pro308Ser | |
| NM_001282548.2:c.865C>T | NP_001269477.1:p.Pro289Ser | |
| NM_001282549.2:c.736C>T | NP_001269478.1:p.Pro246Ser | |
| NR_104212.2:n.2240C>T | ||
| NR_104215.2:n.2183C>T | ||
| NR_104216.2:n.1439C>T |