Linked Data
ClinVar Variation Id:
284737
dbSNP Id:
rs201196733
ExAC:
16:56530925 G / A
gnomAD v2:
16-56530925-G-A
gnomAD v3:
16-56497013-G-A
gnomAD v4:
16-56497013-G-A
PubMed:
PMID:21344540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56497013G>A , CM000678.2:g.56497013G>A | GRCh38 |
| NC_000016.9:g.56530925G>A , CM000678.1:g.56530925G>A | GRCh37 |
| NC_000016.8:g.55088426G>A | NCBI36 |
| NG_009312.1:g.28271C>T | |
| NG_009312.2:g.28012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1851C>T | ENSP00000454986.2:n.1851C>T | |
| ENST00000562813.2:n.3351C>T | ||
| ENST00000564459.6:n.591C>T | ||
| ENST00000565781.6:n.5395C>T | ||
| ENST00000565859.2:n.2938C>T | ||
| ENST00000566210.2:n.2293C>T | ||
| ENST00000566410.2:n.5378C>T | ||
| ENST00000566452.2:n.2987C>T | ||
| ENST00000566495.2:n.833C>T | ||
| ENST00000568104.6:c.1726C>T | ENSP00000456289.1:p.Arg576Ter | |
| ENST00000569192.6:n.969C>T | ||
| ENST00000618027.2:n.643C>T | ||
| ENST00000682000.1:n.1422C>T | ||
| ENST00000682001.1:n.2893C>T | ||
| ENST00000682005.1:n.1855C>T | ||
| ENST00000682038.1:c.*1253C>T | ENSP00000508404.1:n.*1253C>T | |
| ENST00000682047.1:c.1864C>T | ENSP00000507699.1:p.Arg622Ter | |
| ENST00000682088.1:c.*4805C>T | ENSP00000508064.1:n.*4805C>T | |
| ENST00000682096.1:n.4314C>T | ||
| ENST00000682113.1:n.4081C>T | ||
| ENST00000682146.1:n.3021C>T | ||
| ENST00000682187.1:c.*1288C>T | ENSP00000507203.1:n.*1288C>T | |
| ENST00000682188.1:c.1909C>T | ENSP00000507655.1:p.Arg637Ter | |
| ENST00000682201.1:n.1855C>T | ||
| ENST00000682205.1:c.1864C>T | ENSP00000508377.1:p.Arg622Ter | |
| ENST00000682348.1:c.*913C>T | ENSP00000506965.1:n.*913C>T | |
| ENST00000682360.1:c.1267C>T | ENSP00000508007.1:p.Arg423Ter | |
| ENST00000682370.1:n.3230C>T | ||
| ENST00000682420.1:n.2411C>T | ||
| ENST00000682429.1:c.*533C>T | ENSP00000506827.1:n.*533C>T | |
| ENST00000682449.1:c.*615C>T | ENSP00000507836.1:n.*615C>T | |
| ENST00000682470.1:c.1864C>T | ENSP00000507654.1:p.Arg622Ter | |
| ENST00000682473.1:n.1829C>T | ||
| ENST00000682482.1:c.1738C>T | ENSP00000507903.1:p.Arg580Ter | |
| ENST00000682492.1:n.1952C>T | ||
| ENST00000682493.1:c.*459C>T | ENSP00000506778.1:n.*459C>T | |
| ENST00000682543.1:c.*1288C>T | ENSP00000507592.1:n.*1288C>T | |
| ENST00000682597.1:n.4051C>T | ||
| ENST00000682623.1:n.465C>T | ||
| ENST00000682658.1:c.*896C>T | ENSP00000507773.1:n.*896C>T | |
| ENST00000682705.1:n.2933C>T | ||
| ENST00000682723.1:c.1267C>T | ENSP00000507115.1:p.Arg423Ter | |
| ENST00000682735.1:c.*3532C>T | ENSP00000507007.1:n.*3532C>T | |
| ENST00000682737.1:c.1267C>T | ENSP00000506876.1:p.Arg423Ter | |
| ENST00000682757.1:n.3557C>T | ||
| ENST00000682855.1:c.1864C>T | ENSP00000507027.1:p.Arg622Ter | |
| ENST00000682875.1:c.1864C>T | ENSP00000507771.1:p.Arg622Ter | |
| ENST00000682930.1:c.1789C>T | ENSP00000507981.1:p.Arg597Ter | |
| ENST00000682948.1:n.2896C>T | ||
| ENST00000682960.1:n.4105C>T | ||
| ENST00000683008.1:n.5260C>T | ||
| ENST00000683020.1:c.*405C>T | ENSP00000507944.1:n.*405C>T | |
| ENST00000683099.1:n.3893C>T | ||
| ENST00000683170.1:n.3589C>T | ||
| ENST00000683212.1:c.*405C>T | ENSP00000507839.1:n.*405C>T | |
| ENST00000683248.1:n.3822C>T | ||
| ENST00000683343.1:n.2718C>T | ||
| ENST00000683347.1:n.2071C>T | ||
| ENST00000683384.1:c.1885C>T | ENSP00000508330.1:n.1885C>T | |
| ENST00000683396.1:n.4641C>T | ||
| ENST00000683410.1:n.2286C>T | ||
| ENST00000683443.1:n.1498C>T | ||
| ENST00000683485.1:n.4432C>T | ||
| ENST00000683504.1:n.7455C>T | ||
| ENST00000683533.1:c.*1288C>T | ENSP00000508296.1:n.*1288C>T | |
| ENST00000683609.1:n.3933C>T | ||
| ENST00000683644.1:c.*1038C>T | ENSP00000507914.1:n.*1038C>T | |
| ENST00000683660.1:n.2077C>T | ||
| ENST00000683669.1:n.1747C>T | ||
| ENST00000683690.1:c.*3316C>T | ENSP00000508152.1:n.*3316C>T | |
| ENST00000683719.1:n.1847C>T | ||
| ENST00000683757.1:n.1853C>T | ||
| ENST00000683858.1:c.1816C>T | ENSP00000507657.1:p.Arg606Ter | |
| ENST00000683875.1:c.1636C>T | ENSP00000507602.1:p.Arg546Ter | |
| ENST00000683904.1:n.4169C>T | ||
| ENST00000683910.1:n.4559C>T | ||
| ENST00000683959.1:c.*913C>T | ENSP00000508309.1:n.*913C>T | |
| ENST00000683976.1:c.*1413C>T | ENSP00000507183.1:n.*1413C>T | |
| ENST00000683978.1:n.2007C>T | ||
| ENST00000683992.1:c.*1504C>T | ENSP00000508144.1:n.*1504C>T | |
| ENST00000684020.1:n.2286C>T | ||
| ENST00000684044.1:n.2852C>T | ||
| ENST00000684057.1:n.2782C>T | ||
| ENST00000684076.1:n.3244C>T | ||
| ENST00000684128.1:n.3432C>T | ||
| ENST00000684194.1:n.3495C>T | ||
| ENST00000684205.1:n.3543C>T | ||
| ENST00000684246.1:c.*1504C>T | ENSP00000508273.1:n.*1504C>T | |
| ENST00000684388.1:c.784C>T | ENSP00000507647.1:p.Arg262Ter | |
| ENST00000684402.1:n.3105C>T | ||
| ENST00000684446.1:n.3348C>T | ||
| ENST00000684531.1:n.3306C>T | ||
| ENST00000684635.1:c.1759C>T | ENSP00000507335.1:p.Arg587Ter | |
| ENST00000684640.1:c.1826C>T | ENSP00000507292.1:n.1826C>T | |
| ENST00000684673.1:c.*459C>T | ENSP00000507746.1:n.*459C>T | |
| ENST00000684684.1:c.*1116C>T | ENSP00000507026.1:n.*1116C>T | |
| ENST00000245157.11:c.1864C>T MANE Select | ENSP00000245157.5:p.Arg622Ter | |
| ENST00000245157.9:c.1864C>T | ENSP00000245157.5:p.Arg622Ter | |
| ENST00000562813.1:n.3351C>T | ||
| ENST00000564459.5:c.127C>T | ENSP00000463731.1:p.Arg43Ter | |
| ENST00000565781.5:n.5395C>T | ||
| ENST00000568104.5:c.1726C>T | ENSP00000456289.1:p.Arg576Ter | |
| ENST00000569192.5:n.538C>T | ||
| NM_031885.3:c.1864C>T | NP_114091.3:p.Arg622Ter | |
| XM_005256080.1:c.1864C>T | XP_005256137.1:p.Arg622Ter | |
| XR_933378.1:n.1925C>T | ||
| XM_005256080.2:c.1864C>T | XP_005256137.1:p.Arg622Ter | |
| XR_001751958.1:n.2225C>T | ||
| XR_001751959.2:n.2222C>T | ||
| XR_001751960.1:n.1925C>T | ||
| XR_001751961.1:n.1925C>T | ||
| XR_933380.2:n.2053C>T | ||
| NM_031885.4:c.1864C>T | NP_114091.3:p.Arg622Ter | |
| NM_001377456.1:c.1864C>T | NP_001364385.1:p.Arg622Ter | |
| NM_031885.5:c.1864C>T MANE Select | NP_114091.4:p.Arg622Ter | |
| NR_165293.1:n.2154C>T | ||
| NR_165294.1:n.2151C>T | ||
| NR_165295.1:n.1982C>T | ||
| NR_165296.1:n.1854C>T | ||
| NR_165297.1:n.1854C>T |