Linked Data
ClinVar Variation Id:
285607
dbSNP Id:
rs200621431
ExAC:
16:56519608 A / G
gnomAD v2:
16-56519608-A-G
gnomAD v3:
16-56485696-A-G
gnomAD v4:
16-56485696-A-G
MyVariant Identifiers:
chr16:g.56519608A>G (hg19)
chr16:g.56519608_56519615delinsGTTAAGGT (hg19)
chr16:g.56485696A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56485696A>G , CM000678.2:g.56485696A>G | GRCh38 |
| NC_000016.9:g.56519608A>G , CM000678.1:g.56519608A>G | GRCh37 |
| NC_000016.8:g.55077109A>G | NCBI36 |
| NG_009312.1:g.39588T>C | |
| NG_009312.2:g.39329T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1940T>C | ENSP00000454986.2:n.1940T>C | |
| ENST00000562813.2:n.3440T>C | ||
| ENST00000564123.7:n.798T>C | ||
| ENST00000564459.6:n.680T>C | ||
| ENST00000565781.6:n.5484T>C | ||
| ENST00000565859.2:n.3027T>C | ||
| ENST00000566210.2:n.2382T>C | ||
| ENST00000566410.2:n.5467T>C | ||
| ENST00000566452.2:n.3076T>C | ||
| ENST00000568104.6:c.1815T>C | ENSP00000456289.1:p.Asn605= | |
| ENST00000569192.6:n.1058T>C | ||
| ENST00000618027.2:n.732T>C | ||
| ENST00000682000.1:n.1511T>C | ||
| ENST00000682001.1:n.2982T>C | ||
| ENST00000682038.1:c.*1342T>C | ENSP00000508404.1:n.*1342T>C | |
| ENST00000682047.1:c.1953T>C | ENSP00000507699.1:p.Asn651= | |
| ENST00000682088.1:c.*4894T>C | ENSP00000508064.1:n.*4894T>C | |
| ENST00000682096.1:n.4403T>C | ||
| ENST00000682113.1:n.4170T>C | ||
| ENST00000682146.1:n.3110T>C | ||
| ENST00000682187.1:c.*1377T>C | ENSP00000507203.1:n.*1377T>C | |
| ENST00000682188.1:c.1998T>C | ENSP00000507655.1:p.Asn666= | |
| ENST00000682201.1:n.1944T>C | ||
| ENST00000682205.1:c.1953T>C | ENSP00000508377.1:p.Asn651= | |
| ENST00000682348.1:c.*1002T>C | ENSP00000506965.1:n.*1002T>C | |
| ENST00000682360.1:c.1356T>C | ENSP00000508007.1:p.Asn452= | |
| ENST00000682370.1:n.3319T>C | ||
| ENST00000682420.1:n.2500T>C | ||
| ENST00000682429.1:c.*622T>C | ENSP00000506827.1:n.*622T>C | |
| ENST00000682449.1:c.*704T>C | ENSP00000507836.1:n.*704T>C | |
| ENST00000682470.1:c.1953T>C | ENSP00000507654.1:p.Asn651= | |
| ENST00000682473.1:n.1918T>C | ||
| ENST00000682482.1:c.1827T>C | ENSP00000507903.1:p.Asn609= | |
| ENST00000682492.1:n.2041T>C | ||
| ENST00000682493.1:c.*548T>C | ENSP00000506778.1:n.*548T>C | |
| ENST00000682543.1:c.*1377T>C | ENSP00000507592.1:n.*1377T>C | |
| ENST00000682597.1:n.4140T>C | ||
| ENST00000682658.1:c.*985T>C | ENSP00000507773.1:n.*985T>C | |
| ENST00000682705.1:n.3022T>C | ||
| ENST00000682723.1:c.*32T>C | ENSP00000507115.1:n.*32T>C | |
| ENST00000682735.1:c.*3621T>C | ENSP00000507007.1:n.*3621T>C | |
| ENST00000682737.1:c.1356T>C | ENSP00000506876.1:p.Asn452= | |
| ENST00000682757.1:n.3646T>C | ||
| ENST00000682855.1:c.1953T>C | ENSP00000507027.1:p.Asn651= | |
| ENST00000682875.1:c.*32T>C | ENSP00000507771.1:n.*32T>C | |
| ENST00000682930.1:c.1878T>C | ENSP00000507981.1:p.Asn626= | |
| ENST00000682948.1:n.2985T>C | ||
| ENST00000682960.1:n.4194T>C | ||
| ENST00000683008.1:n.5408T>C | ||
| ENST00000683020.1:c.*494T>C | ENSP00000507944.1:n.*494T>C | |
| ENST00000683099.1:n.3982T>C | ||
| ENST00000683170.1:n.3678T>C | ||
| ENST00000683212.1:c.*494T>C | ENSP00000507839.1:n.*494T>C | |
| ENST00000683248.1:n.3911T>C | ||
| ENST00000683343.1:n.2807T>C | ||
| ENST00000683347.1:n.2160T>C | ||
| ENST00000683384.1:c.1974T>C | ENSP00000508330.1:n.1974T>C | |
| ENST00000683396.1:n.4730T>C | ||
| ENST00000683410.1:n.2434T>C | ||
| ENST00000683443.1:n.1587T>C | ||
| ENST00000683485.1:n.4521T>C | ||
| ENST00000683504.1:n.7544T>C | ||
| ENST00000683533.1:c.*1377T>C | ENSP00000508296.1:n.*1377T>C | |
| ENST00000683609.1:n.4022T>C | ||
| ENST00000683644.1:c.*1127T>C | ENSP00000507914.1:n.*1127T>C | |
| ENST00000683690.1:c.*3405T>C | ENSP00000508152.1:n.*3405T>C | |
| ENST00000683757.1:n.1942T>C | ||
| ENST00000683858.1:c.1905T>C | ENSP00000507657.1:p.Asn635= | |
| ENST00000683875.1:c.1725T>C | ENSP00000507602.1:p.Asn575= | |
| ENST00000683904.1:n.4258T>C | ||
| ENST00000683910.1:n.4648T>C | ||
| ENST00000683959.1:c.*1002T>C | ENSP00000508309.1:n.*1002T>C | |
| ENST00000683976.1:c.*1502T>C | ENSP00000507183.1:n.*1502T>C | |
| ENST00000683978.1:n.2096T>C | ||
| ENST00000683992.1:c.*1593T>C | ENSP00000508144.1:n.*1593T>C | |
| ENST00000684020.1:n.2375T>C | ||
| ENST00000684044.1:n.2941T>C | ||
| ENST00000684057.1:n.2871T>C | ||
| ENST00000684076.1:n.3333T>C | ||
| ENST00000684128.1:n.3521T>C | ||
| ENST00000684194.1:n.3584T>C | ||
| ENST00000684205.1:n.3632T>C | ||
| ENST00000684246.1:c.*1593T>C | ENSP00000508273.1:n.*1593T>C | |
| ENST00000684388.1:c.873T>C | ENSP00000507647.1:p.Asn291= | |
| ENST00000684402.1:n.3194T>C | ||
| ENST00000684446.1:n.3437T>C | ||
| ENST00000684531.1:n.3395T>C | ||
| ENST00000684635.1:c.1848T>C | ENSP00000507335.1:p.Asn616= | |
| ENST00000684640.1:c.1915T>C | ENSP00000507292.1:n.1915T>C | |
| ENST00000684673.1:c.*548T>C | ENSP00000507746.1:n.*548T>C | |
| ENST00000684684.1:c.*1205T>C | ENSP00000507026.1:n.*1205T>C | |
| ENST00000245157.11:c.1953T>C MANE Select | ENSP00000245157.5:p.Asn651= | |
| ENST00000245157.9:c.1953T>C | ENSP00000245157.5:p.Asn651= | |
| ENST00000562813.1:n.3440T>C | ||
| ENST00000564123.6:c.43T>C | ||
| ENST00000564459.5:c.216T>C | ENSP00000463731.1:p.Asn72= | |
| ENST00000565781.5:n.5484T>C | ||
| ENST00000568104.5:c.1815T>C | ENSP00000456289.1:p.Asn605= | |
| ENST00000569192.5:n.627T>C | ||
| NM_031885.3:c.1953T>C | NP_114091.3:p.Asn651= | |
| XM_005256080.1:c.1953T>C | XP_005256137.1:p.Asn651= | |
| XR_933378.1:n.2014T>C | ||
| XM_005256080.2:c.1953T>C | XP_005256137.1:p.Asn651= | |
| XR_001751958.1:n.2314T>C | ||
| XR_001751959.2:n.2311T>C | ||
| XR_001751960.1:n.2014T>C | ||
| XR_001751961.1:n.2014T>C | ||
| XR_933380.2:n.2142T>C | ||
| NM_031885.4:c.1953T>C | NP_114091.3:p.Asn651= | |
| NM_001377456.1:c.1953T>C | NP_001364385.1:p.Asn651= | |
| NM_031885.5:c.1953T>C MANE Select | NP_114091.4:p.Asn651= | |
| NR_165293.1:n.2243T>C | ||
| NR_165294.1:n.2240T>C | ||
| NR_165295.1:n.2071T>C | ||
| NR_165296.1:n.1943T>C | ||
| NR_165297.1:n.1943T>C |