Linked Data
ClinVar Variation Id:
4577
ClinVar RCV Id:
RCV000004839
RCV000190985
RCV000587645
RCV000665304
RCV000762969
RCV001002876
RCV001582466
RCV003934798
dbSNP Id:
rs121908179
ExAC:
16:56548399 T / G
gnomAD v2:
16-56548399-T-G
gnomAD v3:
16-56514487-T-G
gnomAD v4:
16-56514487-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56514487T>G , CM000678.2:g.56514487T>G | GRCh38 |
| NC_000016.9:g.56548399T>G , CM000678.1:g.56548399T>G | GRCh37 |
| NC_000016.8:g.55105900T>G | NCBI36 |
| NG_009312.1:g.10797A>C | |
| NG_009312.2:g.10538A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000562012.2:c.*285A>C | ENSP00000455651.2:n.*285A>C | |
| ENST00000562059.2:n.308A>C | ||
| ENST00000565378.2:n.194A>C | ||
| ENST00000565781.6:n.325A>C | ||
| ENST00000566410.2:n.524A>C | ||
| ENST00000568104.6:c.311A>C | ENSP00000456289.1:p.Asp104Ala | |
| ENST00000569342.6:n.484A>C | ||
| ENST00000569941.6:c.-163A>C | ENSP00000456741.2:n.-163A>C | |
| ENST00000682001.1:n.305A>C | ||
| ENST00000682005.1:n.302A>C | ||
| ENST00000682021.1:n.321A>C | ||
| ENST00000682038.1:c.311A>C | ENSP00000508404.1:p.Asp104Ala | |
| ENST00000682047.1:c.311A>C | ENSP00000507699.1:p.Asp104Ala | |
| ENST00000682088.1:c.311A>C | ENSP00000508064.1:p.Asp104Ala | |
| ENST00000682096.1:n.517A>C | ||
| ENST00000682113.1:n.284A>C | ||
| ENST00000682146.1:n.524A>C | ||
| ENST00000682187.1:c.311A>C | ENSP00000507203.1:p.Asp104Ala | |
| ENST00000682188.1:c.311A>C | ENSP00000507655.1:p.Asp104Ala | |
| ENST00000682201.1:n.302A>C | ||
| ENST00000682205.1:c.311A>C | ENSP00000508377.1:p.Asp104Ala | |
| ENST00000682348.1:c.311A>C | ENSP00000506965.1:p.Asp104Ala | |
| ENST00000682360.1:c.-287A>C | ENSP00000508007.1:n.-287A>C | |
| ENST00000682370.1:n.517A>C | ||
| ENST00000682420.1:n.517A>C | ||
| ENST00000682429.1:c.311A>C | ENSP00000506827.1:p.Asp104Ala | |
| ENST00000682449.1:c.311A>C | ENSP00000507836.1:p.Asp104Ala | |
| ENST00000682470.1:c.311A>C | ENSP00000507654.1:p.Asp104Ala | |
| ENST00000682473.1:n.276A>C | ||
| ENST00000682482.1:c.311A>C | ENSP00000507903.1:p.Asp104Ala | |
| ENST00000682492.1:n.355A>C | ||
| ENST00000682493.1:c.311A>C | ENSP00000506778.1:p.Asp104Ala | |
| ENST00000682543.1:c.311A>C | ENSP00000507592.1:p.Asp104Ala | |
| ENST00000682561.1:n.320A>C | ||
| ENST00000682597.1:n.517A>C | ||
| ENST00000682658.1:c.311A>C | ENSP00000507773.1:p.Asp104Ala | |
| ENST00000682705.1:n.517A>C | ||
| ENST00000682723.1:c.-287A>C | ENSP00000507115.1:n.-287A>C | |
| ENST00000682735.1:c.311A>C | ENSP00000507007.1:p.Asp104Ala | |
| ENST00000682737.1:c.-287A>C | ENSP00000506876.1:n.-287A>C | |
| ENST00000682757.1:n.517A>C | ||
| ENST00000682855.1:c.311A>C | ENSP00000507027.1:p.Asp104Ala | |
| ENST00000682857.1:n.524A>C | ||
| ENST00000682875.1:c.311A>C | ENSP00000507771.1:p.Asp104Ala | |
| ENST00000682919.1:n.273A>C | ||
| ENST00000682930.1:c.236A>C | ENSP00000507981.1:p.Asp79Ala | |
| ENST00000682948.1:n.524A>C | ||
| ENST00000682960.1:n.524A>C | ||
| ENST00000683008.1:n.517A>C | ||
| ENST00000683020.1:c.311A>C | ENSP00000507944.1:p.Asp104Ala | |
| ENST00000683099.1:n.517A>C | ||
| ENST00000683170.1:n.455A>C | ||
| ENST00000683212.1:c.311A>C | ENSP00000507839.1:p.Asp104Ala | |
| ENST00000683248.1:n.517A>C | ||
| ENST00000683343.1:n.302A>C | ||
| ENST00000683347.1:n.302A>C | ||
| ENST00000683384.1:c.194A>C | ENSP00000508330.1:p.Asp65Ala | |
| ENST00000683396.1:n.517A>C | ||
| ENST00000683410.1:n.517A>C | ||
| ENST00000683485.1:n.524A>C | ||
| ENST00000683504.1:n.517A>C | ||
| ENST00000683533.1:c.-287A>C | ENSP00000508296.1:n.-287A>C | |
| ENST00000683609.1:n.524A>C | ||
| ENST00000683644.1:c.311A>C | ENSP00000507914.1:p.Asp104Ala | |
| ENST00000683660.1:n.524A>C | ||
| ENST00000683669.1:n.194A>C | ||
| ENST00000683690.1:c.311A>C | ENSP00000508152.1:p.Asp104Ala | |
| ENST00000683719.1:n.294A>C | ||
| ENST00000683757.1:n.300A>C | ||
| ENST00000683858.1:c.311A>C | ENSP00000507657.1:p.Asp104Ala | |
| ENST00000683875.1:c.118-3203A>C | ENSP00000507602.1:n.118-3203A>C | |
| ENST00000683904.1:n.524A>C | ||
| ENST00000683910.1:n.524A>C | ||
| ENST00000683959.1:c.-287A>C | ENSP00000508309.1:n.-287A>C | |
| ENST00000683976.1:c.311A>C | ENSP00000507183.1:p.Asp104Ala | |
| ENST00000683978.1:n.454A>C | ||
| ENST00000683992.1:c.311A>C | ENSP00000508144.1:p.Asp104Ala | |
| ENST00000684020.1:n.517A>C | ||
| ENST00000684044.1:n.524A>C | ||
| ENST00000684057.1:n.513A>C | ||
| ENST00000684076.1:n.482A>C | ||
| ENST00000684128.1:n.517A>C | ||
| ENST00000684194.1:n.517A>C | ||
| ENST00000684205.1:n.355A>C | ||
| ENST00000684246.1:c.311A>C | ENSP00000508273.1:p.Asp104Ala | |
| ENST00000684402.1:n.517A>C | ||
| ENST00000684446.1:n.524A>C | ||
| ENST00000684531.1:n.544A>C | ||
| ENST00000684635.1:c.311A>C | ENSP00000507335.1:p.Asp104Ala | |
| ENST00000684640.1:c.194A>C | ENSP00000507292.1:p.Asp65Ala | |
| ENST00000684673.1:c.311A>C | ENSP00000507746.1:p.Asp104Ala | |
| ENST00000684684.1:c.311A>C | ENSP00000507026.1:p.Asp104Ala | |
| ENST00000245157.11:c.311A>C MANE Select | ENSP00000245157.5:p.Asp104Ala | |
| ENST00000245157.9:c.311A>C | ENSP00000245157.5:p.Asp104Ala | |
| ENST00000565378.1:n.294A>C | ||
| ENST00000565781.5:n.325A>C | ||
| ENST00000566689.5:n.302A>C | ||
| ENST00000568104.5:c.311A>C | ENSP00000456289.1:p.Asp104Ala | |
| ENST00000569342.5:n.445A>C | ||
| ENST00000569941.5:c.-287A>C | ENSP00000456741.1:n.-287A>C | |
| NM_031885.3:c.311A>C | NP_114091.3:p.Asp104Ala | |
| XM_005256080.1:c.311A>C | XP_005256137.1:p.Asp104Ala | |
| XM_005256081.1:c.311A>C | XP_005256138.1:p.Asp104Ala | |
| XM_005256082.1:c.311A>C | XP_005256139.1:p.Asp104Ala | |
| XM_011523251.1:c.311A>C | XP_011521553.1:p.Asp104Ala | |
| XR_933378.1:n.544A>C | ||
| XR_933379.1:n.544A>C | ||
| XR_933380.1:n.544A>C | ||
| XM_005256080.2:c.311A>C | XP_005256137.1:p.Asp104Ala | |
| XR_001751958.1:n.544A>C | ||
| XR_001751959.2:n.544A>C | ||
| XR_001751960.1:n.544A>C | ||
| XR_001751961.1:n.544A>C | ||
| XR_933380.2:n.544A>C | ||
| NM_031885.4:c.311A>C | NP_114091.3:p.Asp104Ala | |
| NM_001377456.1:c.311A>C | NP_001364385.1:p.Asp104Ala | |
| NM_031885.5:c.311A>C MANE Select | NP_114091.4:p.Asp104Ala | |
| NR_165293.1:n.473A>C | ||
| NR_165294.1:n.473A>C | ||
| NR_165295.1:n.473A>C | ||
| NR_165296.1:n.473A>C | ||
| NR_165297.1:n.473A>C |