Linked Data
ClinVar Variation Id:
496478
dbSNP Id:
rs567573386
ExAC:
16:56518732 G / A
gnomAD v2:
16-56518732-G-A
gnomAD v3:
16-56484820-G-A
gnomAD v4:
16-56484820-G-A
COSMIC:
COSM3988532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56484820G>A , CM000678.2:g.56484820G>A | GRCh38 |
| NC_000016.9:g.56518732G>A , CM000678.1:g.56518732G>A | GRCh37 |
| NC_000016.8:g.55076233G>A | NCBI36 |
| NG_009312.1:g.40464C>T | |
| NG_009312.2:g.40205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.2094C>T | ENSP00000454986.2:n.2094C>T | |
| ENST00000562813.2:n.3594C>T | ||
| ENST00000564123.7:n.952C>T | ||
| ENST00000564459.6:n.834C>T | ||
| ENST00000565781.6:n.5638C>T | ||
| ENST00000565859.2:n.3181C>T | ||
| ENST00000566210.2:n.2536C>T | ||
| ENST00000566410.2:n.5621C>T | ||
| ENST00000566452.2:n.3230C>T | ||
| ENST00000568104.6:c.1969C>T | ENSP00000456289.1:p.Arg657Ter | |
| ENST00000569192.6:n.1212C>T | ||
| ENST00000618027.2:n.886C>T | ||
| ENST00000682000.1:n.1665C>T | ||
| ENST00000682001.1:n.3136C>T | ||
| ENST00000682038.1:c.*1496C>T | ENSP00000508404.1:n.*1496C>T | |
| ENST00000682047.1:c.2107C>T | ENSP00000507699.1:p.Arg703Ter | |
| ENST00000682088.1:c.*5048C>T | ENSP00000508064.1:n.*5048C>T | |
| ENST00000682096.1:n.4557C>T | ||
| ENST00000682113.1:n.4324C>T | ||
| ENST00000682146.1:n.3264C>T | ||
| ENST00000682187.1:c.*1531C>T | ENSP00000507203.1:n.*1531C>T | |
| ENST00000682188.1:c.2152C>T | ENSP00000507655.1:p.Arg718Ter | |
| ENST00000682201.1:n.2098C>T | ||
| ENST00000682205.1:c.2107C>T | ENSP00000508377.1:p.Arg703Ter | |
| ENST00000682348.1:c.*1156C>T | ENSP00000506965.1:n.*1156C>T | |
| ENST00000682360.1:c.1510C>T | ENSP00000508007.1:p.Arg504Ter | |
| ENST00000682370.1:n.3473C>T | ||
| ENST00000682420.1:n.2654C>T | ||
| ENST00000682429.1:c.*776C>T | ENSP00000506827.1:n.*776C>T | |
| ENST00000682449.1:c.*858C>T | ENSP00000507836.1:n.*858C>T | |
| ENST00000682470.1:c.2107C>T | ENSP00000507654.1:p.Arg703Ter | |
| ENST00000682473.1:n.2072C>T | ||
| ENST00000682482.1:c.1981C>T | ENSP00000507903.1:p.Arg661Ter | |
| ENST00000682492.1:n.2195C>T | ||
| ENST00000682493.1:c.*702C>T | ENSP00000506778.1:n.*702C>T | |
| ENST00000682543.1:c.*1531C>T | ENSP00000507592.1:n.*1531C>T | |
| ENST00000682597.1:n.4294C>T | ||
| ENST00000682658.1:c.*1139C>T | ENSP00000507773.1:n.*1139C>T | |
| ENST00000682705.1:n.3176C>T | ||
| ENST00000682723.1:c.*186C>T | ENSP00000507115.1:n.*186C>T | |
| ENST00000682735.1:c.*3775C>T | ENSP00000507007.1:n.*3775C>T | |
| ENST00000682737.1:c.1510C>T | ENSP00000506876.1:p.Arg504Ter | |
| ENST00000682757.1:n.3800C>T | ||
| ENST00000682855.1:c.2107C>T | ENSP00000507027.1:p.Arg703Ter | |
| ENST00000682875.1:c.*186C>T | ENSP00000507771.1:n.*186C>T | |
| ENST00000682930.1:c.2032C>T | ENSP00000507981.1:p.Arg678Ter | |
| ENST00000682948.1:n.3139C>T | ||
| ENST00000682960.1:n.4348C>T | ||
| ENST00000683008.1:n.5562C>T | ||
| ENST00000683020.1:c.*648C>T | ENSP00000507944.1:n.*648C>T | |
| ENST00000683099.1:n.4136C>T | ||
| ENST00000683170.1:n.3832C>T | ||
| ENST00000683212.1:c.*648C>T | ENSP00000507839.1:n.*648C>T | |
| ENST00000683248.1:n.4065C>T | ||
| ENST00000683343.1:n.2961C>T | ||
| ENST00000683347.1:n.2314C>T | ||
| ENST00000683384.1:c.2128C>T | ENSP00000508330.1:n.2128C>T | |
| ENST00000683396.1:n.4884C>T | ||
| ENST00000683410.1:n.2588C>T | ||
| ENST00000683443.1:n.1741C>T | ||
| ENST00000683485.1:n.4675C>T | ||
| ENST00000683504.1:n.7698C>T | ||
| ENST00000683533.1:c.*1531C>T | ENSP00000508296.1:n.*1531C>T | |
| ENST00000683609.1:n.4176C>T | ||
| ENST00000683644.1:c.*1281C>T | ENSP00000507914.1:n.*1281C>T | |
| ENST00000683690.1:c.*3559C>T | ENSP00000508152.1:n.*3559C>T | |
| ENST00000683757.1:n.2096C>T | ||
| ENST00000683858.1:c.2059C>T | ENSP00000507657.1:p.Arg687Ter | |
| ENST00000683875.1:c.1879C>T | ENSP00000507602.1:p.Arg627Ter | |
| ENST00000683904.1:n.4412C>T | ||
| ENST00000683910.1:n.4802C>T | ||
| ENST00000683959.1:c.*1156C>T | ENSP00000508309.1:n.*1156C>T | |
| ENST00000683976.1:c.*1656C>T | ENSP00000507183.1:n.*1656C>T | |
| ENST00000683978.1:n.2250C>T | ||
| ENST00000683992.1:c.*1747C>T | ENSP00000508144.1:n.*1747C>T | |
| ENST00000684020.1:n.2529C>T | ||
| ENST00000684044.1:n.3095C>T | ||
| ENST00000684057.1:n.3025C>T | ||
| ENST00000684076.1:n.3487C>T | ||
| ENST00000684128.1:n.3675C>T | ||
| ENST00000684194.1:n.3738C>T | ||
| ENST00000684205.1:n.3786C>T | ||
| ENST00000684246.1:c.*1747C>T | ENSP00000508273.1:n.*1747C>T | |
| ENST00000684388.1:c.1027C>T | ENSP00000507647.1:p.Arg343Ter | |
| ENST00000684402.1:n.3348C>T | ||
| ENST00000684446.1:n.3591C>T | ||
| ENST00000684531.1:n.3549C>T | ||
| ENST00000684635.1:c.2002C>T | ENSP00000507335.1:p.Arg668Ter | |
| ENST00000684640.1:c.2069C>T | ENSP00000507292.1:n.2069C>T | |
| ENST00000684673.1:c.*702C>T | ENSP00000507746.1:n.*702C>T | |
| ENST00000684684.1:c.*1359C>T | ENSP00000507026.1:n.*1359C>T | |
| ENST00000245157.11:c.2107C>T MANE Select | ENSP00000245157.5:p.Arg703Ter | |
| ENST00000245157.9:c.2107C>T | ENSP00000245157.5:p.Arg703Ter | |
| ENST00000562813.1:n.3594C>T | ||
| ENST00000564123.6:c.197C>T | ||
| ENST00000564459.5:c.370C>T | ENSP00000463731.1:p.Arg124Ter | |
| ENST00000565781.5:n.5638C>T | ||
| ENST00000568104.5:c.1969C>T | ENSP00000456289.1:p.Arg657Ter | |
| NM_031885.3:c.2107C>T | NP_114091.3:p.Arg703Ter | |
| XM_005256080.1:c.2107C>T | XP_005256137.1:p.Arg703Ter | |
| XM_005256080.2:c.2107C>T | XP_005256137.1:p.Arg703Ter | |
| XR_001751958.1:n.2468C>T | ||
| XR_001751959.2:n.2465C>T | ||
| XR_001751960.1:n.2168C>T | ||
| XR_001751961.1:n.2168C>T | ||
| XR_933380.2:n.2296C>T | ||
| NM_031885.4:c.2107C>T | NP_114091.3:p.Arg703Ter | |
| NM_001377456.1:c.2107C>T | NP_001364385.1:p.Arg703Ter | |
| NM_031885.5:c.2107C>T MANE Select | NP_114091.4:p.Arg703Ter | |
| NR_165293.1:n.2397C>T | ||
| NR_165294.1:n.2394C>T | ||
| NR_165295.1:n.2225C>T | ||
| NR_165296.1:n.2097C>T | ||
| NR_165297.1:n.2097C>T |