Linked Data
ClinVar Variation Id:
4578
ClinVar RCV Id:
RCV000004840
RCV000190986
RCV000380902
RCV000589221
RCV001002874
RCV001073916
RCV001268711
RCV002490315
RCV002512776
dbSNP Id:
rs138043021
ExAC:
16:56530894 C / G
gnomAD v2:
16-56530894-C-G
gnomAD v3:
16-56496982-C-G
gnomAD v4:
16-56496982-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56496982C>G , CM000678.2:g.56496982C>G | GRCh38 |
| NC_000016.9:g.56530894C>G , CM000678.1:g.56530894C>G | GRCh37 |
| NC_000016.8:g.55088395C>G | NCBI36 |
| NG_009312.1:g.28302G>C | |
| NG_009312.2:g.28043G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1882G>C | ENSP00000454986.2:n.1882G>C | |
| ENST00000562813.2:n.3382G>C | ||
| ENST00000564459.6:n.622G>C | ||
| ENST00000565781.6:n.5426G>C | ||
| ENST00000565859.2:n.2969G>C | ||
| ENST00000566210.2:n.2324G>C | ||
| ENST00000566410.2:n.5409G>C | ||
| ENST00000566452.2:n.3018G>C | ||
| ENST00000566495.2:n.864G>C | ||
| ENST00000568104.6:c.1757G>C | ENSP00000456289.1:p.Arg586Pro | |
| ENST00000569192.6:n.1000G>C | ||
| ENST00000618027.2:n.674G>C | ||
| ENST00000682000.1:n.1453G>C | ||
| ENST00000682001.1:n.2924G>C | ||
| ENST00000682005.1:n.1886G>C | ||
| ENST00000682038.1:c.*1284G>C | ENSP00000508404.1:n.*1284G>C | |
| ENST00000682047.1:c.1895G>C | ENSP00000507699.1:p.Arg632Pro | |
| ENST00000682088.1:c.*4836G>C | ENSP00000508064.1:n.*4836G>C | |
| ENST00000682096.1:n.4345G>C | ||
| ENST00000682113.1:n.4112G>C | ||
| ENST00000682146.1:n.3052G>C | ||
| ENST00000682187.1:c.*1319G>C | ENSP00000507203.1:n.*1319G>C | |
| ENST00000682188.1:c.1940G>C | ENSP00000507655.1:p.Arg647Pro | |
| ENST00000682201.1:n.1886G>C | ||
| ENST00000682205.1:c.1895G>C | ENSP00000508377.1:p.Arg632Pro | |
| ENST00000682348.1:c.*944G>C | ENSP00000506965.1:n.*944G>C | |
| ENST00000682360.1:c.1298G>C | ENSP00000508007.1:p.Arg433Pro | |
| ENST00000682370.1:n.3261G>C | ||
| ENST00000682420.1:n.2442G>C | ||
| ENST00000682429.1:c.*564G>C | ENSP00000506827.1:n.*564G>C | |
| ENST00000682449.1:c.*646G>C | ENSP00000507836.1:n.*646G>C | |
| ENST00000682470.1:c.1895G>C | ENSP00000507654.1:p.Arg632Pro | |
| ENST00000682473.1:n.1860G>C | ||
| ENST00000682482.1:c.1769G>C | ENSP00000507903.1:p.Arg590Pro | |
| ENST00000682492.1:n.1983G>C | ||
| ENST00000682493.1:c.*490G>C | ENSP00000506778.1:n.*490G>C | |
| ENST00000682543.1:c.*1319G>C | ENSP00000507592.1:n.*1319G>C | |
| ENST00000682597.1:n.4082G>C | ||
| ENST00000682623.1:n.496G>C | ||
| ENST00000682658.1:c.*927G>C | ENSP00000507773.1:n.*927G>C | |
| ENST00000682705.1:n.2964G>C | ||
| ENST00000682723.1:c.1298G>C | ENSP00000507115.1:p.Arg433Pro | |
| ENST00000682735.1:c.*3563G>C | ENSP00000507007.1:n.*3563G>C | |
| ENST00000682737.1:c.1298G>C | ENSP00000506876.1:p.Arg433Pro | |
| ENST00000682757.1:n.3588G>C | ||
| ENST00000682855.1:c.1895G>C | ENSP00000507027.1:p.Arg632Pro | |
| ENST00000682875.1:c.1895G>C | ENSP00000507771.1:p.Arg632Pro | |
| ENST00000682930.1:c.1820G>C | ENSP00000507981.1:p.Arg607Pro | |
| ENST00000682948.1:n.2927G>C | ||
| ENST00000682960.1:n.4136G>C | ||
| ENST00000683008.1:n.5291G>C | ||
| ENST00000683020.1:c.*436G>C | ENSP00000507944.1:n.*436G>C | |
| ENST00000683099.1:n.3924G>C | ||
| ENST00000683170.1:n.3620G>C | ||
| ENST00000683212.1:c.*436G>C | ENSP00000507839.1:n.*436G>C | |
| ENST00000683248.1:n.3853G>C | ||
| ENST00000683343.1:n.2749G>C | ||
| ENST00000683347.1:n.2102G>C | ||
| ENST00000683384.1:c.1916G>C | ENSP00000508330.1:n.1916G>C | |
| ENST00000683396.1:n.4672G>C | ||
| ENST00000683410.1:n.2317G>C | ||
| ENST00000683443.1:n.1529G>C | ||
| ENST00000683485.1:n.4463G>C | ||
| ENST00000683504.1:n.7486G>C | ||
| ENST00000683533.1:c.*1319G>C | ENSP00000508296.1:n.*1319G>C | |
| ENST00000683609.1:n.3964G>C | ||
| ENST00000683644.1:c.*1069G>C | ENSP00000507914.1:n.*1069G>C | |
| ENST00000683660.1:n.2108G>C | ||
| ENST00000683669.1:n.1778G>C | ||
| ENST00000683690.1:c.*3347G>C | ENSP00000508152.1:n.*3347G>C | |
| ENST00000683719.1:n.1878G>C | ||
| ENST00000683757.1:n.1884G>C | ||
| ENST00000683858.1:c.1847G>C | ENSP00000507657.1:p.Arg616Pro | |
| ENST00000683875.1:c.1667G>C | ENSP00000507602.1:p.Arg556Pro | |
| ENST00000683904.1:n.4200G>C | ||
| ENST00000683910.1:n.4590G>C | ||
| ENST00000683959.1:c.*944G>C | ENSP00000508309.1:n.*944G>C | |
| ENST00000683976.1:c.*1444G>C | ENSP00000507183.1:n.*1444G>C | |
| ENST00000683978.1:n.2038G>C | ||
| ENST00000683992.1:c.*1535G>C | ENSP00000508144.1:n.*1535G>C | |
| ENST00000684020.1:n.2317G>C | ||
| ENST00000684044.1:n.2883G>C | ||
| ENST00000684057.1:n.2813G>C | ||
| ENST00000684076.1:n.3275G>C | ||
| ENST00000684128.1:n.3463G>C | ||
| ENST00000684194.1:n.3526G>C | ||
| ENST00000684205.1:n.3574G>C | ||
| ENST00000684246.1:c.*1535G>C | ENSP00000508273.1:n.*1535G>C | |
| ENST00000684388.1:c.815G>C | ENSP00000507647.1:p.Arg272Pro | |
| ENST00000684402.1:n.3136G>C | ||
| ENST00000684446.1:n.3379G>C | ||
| ENST00000684531.1:n.3337G>C | ||
| ENST00000684635.1:c.1790G>C | ENSP00000507335.1:p.Arg597Pro | |
| ENST00000684640.1:c.1857G>C | ENSP00000507292.1:n.1857G>C | |
| ENST00000684673.1:c.*490G>C | ENSP00000507746.1:n.*490G>C | |
| ENST00000684684.1:c.*1147G>C | ENSP00000507026.1:n.*1147G>C | |
| ENST00000245157.11:c.1895G>C MANE Select | ENSP00000245157.5:p.Arg632Pro | |
| ENST00000245157.9:c.1895G>C | ENSP00000245157.5:p.Arg632Pro | |
| ENST00000562813.1:n.3382G>C | ||
| ENST00000564459.5:c.158G>C | ENSP00000463731.1:p.Arg53Pro | |
| ENST00000565781.5:n.5426G>C | ||
| ENST00000568104.5:c.1757G>C | ENSP00000456289.1:p.Arg586Pro | |
| ENST00000569192.5:n.569G>C | ||
| NM_031885.3:c.1895G>C | NP_114091.3:p.Arg632Pro | |
| XM_005256080.1:c.1895G>C | XP_005256137.1:p.Arg632Pro | |
| XR_933378.1:n.1956G>C | ||
| XM_005256080.2:c.1895G>C | XP_005256137.1:p.Arg632Pro | |
| XR_001751958.1:n.2256G>C | ||
| XR_001751959.2:n.2253G>C | ||
| XR_001751960.1:n.1956G>C | ||
| XR_001751961.1:n.1956G>C | ||
| XR_933380.2:n.2084G>C | ||
| NM_031885.4:c.1895G>C | NP_114091.3:p.Arg632Pro | |
| NM_001377456.1:c.1895G>C | NP_001364385.1:p.Arg632Pro | |
| NM_031885.5:c.1895G>C MANE Select | NP_114091.4:p.Arg632Pro | |
| NR_165293.1:n.2185G>C | ||
| NR_165294.1:n.2182G>C | ||
| NR_165295.1:n.2013G>C | ||
| NR_165296.1:n.1885G>C | ||
| NR_165297.1:n.1885G>C |