Linked Data
ClinVar Variation Id:
451405
ClinVar RCV Id:
RCV003500543
dbSNP Id:
rs746207786
ExAC:
3:9976559 A / G
gnomAD v2:
3-9976559-A-G
gnomAD v3:
3-9934875-A-G
gnomAD v4:
3-9934875-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9934875A>G , CM000665.2:g.9934875A>G | GRCh38 |
| NC_000003.11:g.9976559A>G , CM000665.1:g.9976559A>G | GRCh37 |
| NC_000003.10:g.9951559A>G | NCBI36 |
| NG_017069.1:g.6035A>G | |
| NG_029376.1:g.22802A>G | |
| NG_029376.2:g.22778A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696835.1:c.*863A>G | ENSP00000512913.1:n.*863A>G | |
| ENST00000696836.1:c.*863A>G | ENSP00000512914.1:n.*863A>G | |
| ENST00000696837.1:c.*1692A>G | ENSP00000512915.1:n.*1692A>G | |
| ENST00000696838.1:c.*863A>G | ENSP00000512916.1:n.*863A>G | |
| ENST00000696839.1:c.*863A>G | ENSP00000512917.1:n.*863A>G | |
| ENST00000397170.8:c.215A>G | ENSP00000380355.4:p.Asn72Ser | |
| ENST00000414117.6:c.215A>G | ENSP00000411021.2:p.Asn72Ser | |
| ENST00000465716.2:n.815A>G | ||
| ENST00000467713.6:n.321A>G | ||
| ENST00000491527.2:c.215A>G | ENSP00000508342.1:p.Asn72Ser | |
| ENST00000602411.2:n.156A>G | ||
| ENST00000673635.2:c.215A>G | ENSP00000501186.2:p.Asn72Ser | |
| ENST00000673677.2:c.215A>G | ENSP00000500985.2:p.Asn72Ser | |
| ENST00000673737.2:c.215A>G | ENSP00000501208.1:p.Asn72Ser | |
| ENST00000673935.2:c.215A>G | ENSP00000500961.2:p.Asn72Ser | |
| ENST00000674067.2:c.215A>G | ENSP00000501009.2:p.Asn72Ser | |
| ENST00000681970.1:n.881A>G | ||
| ENST00000682120.1:n.317A>G | ||
| ENST00000682122.1:c.1428A>G | ENSP00000507036.1:p.Lys476= | |
| ENST00000682200.1:c.215A>G | ENSP00000508321.1:p.Asn72Ser | |
| ENST00000682318.1:c.215A>G | ENSP00000507946.1:p.Asn72Ser | |
| ENST00000682355.1:n.296A>G | ||
| ENST00000682397.1:c.215A>G | ENSP00000507177.1:p.Asn72Ser | |
| ENST00000682403.1:c.215A>G | ENSP00000507865.1:p.Asn72Ser | |
| ENST00000682570.1:c.215A>G | ENSP00000507973.1:p.Asn72Ser | |
| ENST00000682642.1:c.215A>G | ENSP00000507251.1:p.Asn72Ser | |
| ENST00000682771.1:c.215A>G | ENSP00000507114.1:p.Asn72Ser | |
| ENST00000682783.1:c.215A>G | ENSP00000508358.1:p.Asn72Ser | |
| ENST00000682790.1:c.215A>G | ENSP00000507904.1:p.Asn72Ser | |
| ENST00000682798.1:n.820A>G | ||
| ENST00000682866.1:n.234A>G | ||
| ENST00000682884.1:n.709A>G | ||
| ENST00000682906.1:c.215A>G | ENSP00000507674.1:p.Asn72Ser | |
| ENST00000682907.1:c.215A>G | ENSP00000508209.1:p.Asn72Ser | |
| ENST00000682929.1:c.215A>G | ENSP00000507930.1:p.Asn72Ser | |
| ENST00000683061.1:n.1890A>G | ||
| ENST00000683083.1:n.323A>G | ||
| ENST00000683122.1:n.234A>G | ||
| ENST00000683127.1:c.215A>G | ENSP00000506906.1:p.Asn72Ser | |
| ENST00000683189.1:c.215A>G | ENSP00000508018.1:p.Asn72Ser | |
| ENST00000683232.1:c.215A>G | ENSP00000506842.1:p.Asn72Ser | |
| ENST00000683239.1:n.345A>G | ||
| ENST00000683279.1:n.294A>G | ||
| ENST00000683301.1:c.215A>G | ENSP00000507718.1:p.Asn72Ser | |
| ENST00000683316.1:c.215A>G | ENSP00000507076.1:p.Asn72Ser | |
| ENST00000683484.1:c.1440A>G | ENSP00000507040.1:p.Lys480= | |
| ENST00000683507.1:n.578A>G | ||
| ENST00000683547.1:c.215A>G | ENSP00000507258.1:p.Asn72Ser | |
| ENST00000683601.1:c.215A>G | ENSP00000507737.1:p.Asn72Ser | |
| ENST00000683603.1:c.215A>G | ENSP00000508016.1:p.Asn72Ser | |
| ENST00000683736.1:c.215A>G | ENSP00000507761.1:p.Asn72Ser | |
| ENST00000683835.1:c.215A>G | ENSP00000508148.1:p.Asn72Ser | |
| ENST00000683849.1:c.215A>G | ENSP00000506901.1:p.Asn72Ser | |
| ENST00000683888.1:n.820A>G | ||
| ENST00000683891.1:c.215A>G | ENSP00000506972.1:p.Asn72Ser | |
| ENST00000683921.1:c.215A>G | ENSP00000507395.1:p.Asn72Ser | |
| ENST00000683970.1:c.215A>G | ENSP00000507906.1:p.Asn72Ser | |
| ENST00000683982.1:c.215A>G | ENSP00000507437.1:p.Asn72Ser | |
| ENST00000684181.1:c.215A>G | ENSP00000507522.1:p.Asn72Ser | |
| ENST00000684212.1:c.215A>G | ENSP00000507565.1:p.Asn72Ser | |
| ENST00000684243.1:c.215A>G | ENSP00000506959.1:p.Asn72Ser | |
| ENST00000684291.1:c.215A>G | ENSP00000506927.1:p.Asn72Ser | |
| ENST00000684318.1:c.215A>G | ENSP00000508180.1:p.Asn72Ser | |
| ENST00000684493.1:c.215A>G | ENSP00000507127.1:p.Asn72Ser | |
| ENST00000684526.1:c.215A>G | ENSP00000508163.1:p.Asn72Ser | |
| ENST00000684532.1:c.215A>G | ENSP00000508212.1:p.Asn72Ser | |
| ENST00000684601.1:c.215A>G | ENSP00000507886.1:p.Asn72Ser | |
| ENST00000684613.1:c.215A>G | ENSP00000508218.1:p.Asn72Ser | |
| ENST00000684629.1:c.215A>G | ENSP00000506879.1:p.Asn72Ser | |
| ENST00000684648.1:c.215A>G | ENSP00000507931.1:p.Asn72Ser | |
| ENST00000684659.1:c.215A>G | ENSP00000508386.1:p.Asn72Ser | |
| ENST00000383811.8:c.215A>G | ENSP00000373322.3:p.Asn72Ser | |
| ENST00000452070.6:c.215A>G MANE Select | ENSP00000393643.2:p.Asn72Ser | |
| ENST00000673635.1:c.32A>G | ENSP00000501186.1:p.Asn11Ser | |
| ENST00000673677.1:c.485A>G | ENSP00000500985.1:n.485A>G | |
| ENST00000673737.1:c.215A>G | ENSP00000501208.1:p.Asn72Ser | |
| ENST00000674057.1:c.215A>G | ENSP00000501128.1:p.Asn72Ser | |
| ENST00000674067.1:c.72A>G | ENSP00000501009.1:p.Lys24= | |
| ENST00000326434.9:c.215A>G | ENSP00000321856.5:p.Asn72Ser | |
| ENST00000383811.7:c.215A>G | ENSP00000373322.3:p.Asn72Ser | |
| ENST00000397170.7:c.215A>G | ENSP00000380355.3:p.Asn72Ser | |
| ENST00000414117.5:c.215A>G | ENSP00000411021.1:p.Asn72Ser | |
| ENST00000452070.5:c.215A>G | ENSP00000393643.1:p.Asn72Ser | |
| ENST00000465716.1:n.171A>G | ||
| ENST00000491527.1:n.149A>G | ||
| NM_001031717.3:c.215A>G | NP_001026887.1:p.Asn72Ser | |
| NM_001077415.2:c.215A>G | NP_001070883.1:p.Asn72Ser | |
| NM_015513.4:c.215A>G | NP_056328.2:p.Asn72Ser | |
| XM_011534108.1:c.215A>G | XP_011532410.1:p.Asn72Ser | |
| XR_002959584.1:n.299A>G | ||
| NM_001031717.4:c.215A>G | NP_001026887.2:p.Asn72Ser | |
| NM_001077415.3:c.215A>G MANE Select | NP_001070883.2:p.Asn72Ser | |
| NM_001374316.1:c.215A>G | NP_001361245.1:p.Asn72Ser | |
| NM_001374317.1:c.215A>G | NP_001361246.1:p.Asn72Ser | |
| NM_001374318.1:c.215A>G | NP_001361247.1:p.Asn72Ser | |
| NM_001374319.1:c.215A>G | NP_001361248.1:p.Asn72Ser | |
| NM_001374320.1:c.215A>G | NP_001361249.1:p.Asn72Ser | |
| NM_015513.6:c.215A>G | NP_056328.3:p.Asn72Ser | |
| NR_164475.1:n.253A>G | ||
| NR_164476.1:n.321A>G | ||
| NR_164477.1:n.603A>G |