ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00062091 (NFE)
Genomes Max Group AF
0.00034223 (NFE)
Exomes Max Group AF
0.00063102 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6667853C>T , CM000674.2:g.6667853C>T | GRCh38 |
| NC_000012.11:g.6777019C>T , CM000674.1:g.6777019C>T | GRCh37 |
| NC_000012.10:g.6647280C>T | NCBI36 |
| NG_047151.1:g.297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710399.1:c.1739G>A | ENSP00000518253.1:p.Gly580Asp | |
| ENST00000683879.1:c.1688G>A MANE Select | ENSP00000507462.1:p.Gly563Asp | |
| ENST00000319770.7:c.1412G>A | ENSP00000321650.4:p.Gly471Asp | |
| ENST00000355772.8:c.1247G>A | ENSP00000348018.4:p.Gly416Asp | |
| ENST00000361959.7:c.1595G>A | ENSP00000354592.3:p.Gly532Asp | |
| ENST00000396801.7:c.1595G>A | ENSP00000380019.3:p.Gly532Asp | |
| ENST00000545946.1:c.339G>A | ||
| NM_001039920.2:c.1247G>A | NP_001035009.1:p.Gly416Asp | |
| NM_001135734.2:c.1595G>A | NP_001129206.1:p.Gly532Asp | |
| NM_133476.4:c.1412G>A | NP_597733.2:p.Gly471Asp | |
| XM_006718969.2:c.902G>A | XP_006719032.1:p.Gly301Asp | |
| XM_011520917.1:c.1688G>A | XP_011519219.1:p.Gly563Asp | |
| XM_011520918.1:c.1688G>A | XP_011519220.1:p.Gly563Asp | |
| XM_011520919.1:c.1688G>A | XP_011519221.1:p.Gly563Asp | |
| XM_011520920.1:c.1688G>A | XP_011519222.1:p.Gly563Asp | |
| XM_011520921.1:c.1688G>A | XP_011519223.1:p.Gly563Asp | |
| XM_011520922.1:c.1640G>A | XP_011519224.1:p.Gly547Asp | |
| XM_011520923.1:c.1640G>A | XP_011519225.1:p.Gly547Asp | |
| XM_011520924.1:c.1505G>A | XP_011519226.1:p.Gly502Asp | |
| XM_011520925.1:c.902G>A | XP_011519227.1:p.Gly301Asp | |
| XM_006718969.3:c.902G>A | XP_006719032.1:p.Gly301Asp | |
| XM_011520917.2:c.1688G>A | XP_011519219.1:p.Gly563Asp | |
| XM_011520919.2:c.1688G>A | XP_011519221.1:p.Gly563Asp | |
| XM_011520921.2:c.1688G>A | XP_011519223.1:p.Gly563Asp | |
| XM_017018941.1:c.1595G>A | XP_016874430.1:p.Gly532Asp | |
| XM_017018942.2:c.1595G>A | XP_016874431.1:p.Gly532Asp | |
| XM_017018943.1:c.1595G>A | XP_016874432.1:p.Gly532Asp | |
| XM_017018944.1:c.1547G>A | XP_016874433.1:p.Gly516Asp | |
| XM_017018945.1:c.1547G>A | XP_016874434.1:p.Gly516Asp | |
| XM_017018946.1:c.1505G>A | XP_016874435.1:p.Gly502Asp | |
| XM_017018947.2:c.1505G>A | XP_016874436.1:p.Gly502Asp | |
| XM_017018948.2:c.1457G>A | XP_016874437.1:p.Gly486Asp | |
| XM_017018949.1:c.1412G>A | XP_016874438.1:p.Gly471Asp | |
| XM_017018950.2:c.1412G>A | XP_016874439.1:p.Gly471Asp | |
| XM_017018951.1:c.1364G>A | XP_016874440.1:p.Gly455Asp | |
| XM_017018952.1:c.1364G>A | XP_016874441.1:p.Gly455Asp | |
| XM_017018953.2:c.1364G>A | XP_016874442.1:p.Gly455Asp | |
| XM_017018954.2:c.1160G>A | XP_016874443.1:p.Gly387Asp | |
| XM_024448874.1:c.902G>A | XP_024304642.1:p.Gly301Asp | |
| NM_133476.5:c.1412G>A | NP_597733.2:p.Gly471Asp | |
| NM_001039920.3:c.1247G>A | NP_001035009.1:p.Gly416Asp | |
| NM_001135734.3:c.1595G>A | NP_001129206.1:p.Gly532Asp | |
| NM_001385739.1:c.1412G>A | NP_001372668.1:p.Gly471Asp | |
| NM_001385740.1:c.1412G>A | NP_001372669.1:p.Gly471Asp | |
| NM_001385741.1:c.1364G>A | NP_001372670.1:p.Gly455Asp | |
| NM_001385742.1:c.1364G>A | NP_001372671.1:p.Gly455Asp | |
| NM_001385743.1:c.1688G>A | NP_001372672.1:p.Gly563Asp | |
| NM_001385744.1:c.1688G>A | NP_001372673.1:p.Gly563Asp | |
| NM_001385745.1:c.1688G>A MANE Select | NP_001372674.1:p.Gly563Asp | |
| NM_001385746.1:c.1688G>A | NP_001372675.1:p.Gly563Asp | |
| NM_001385747.1:c.1688G>A | NP_001372676.1:p.Gly563Asp | |
| NM_001385748.1:c.1640G>A | NP_001372677.1:p.Gly547Asp | |
| NM_001385749.1:c.1640G>A | NP_001372678.1:p.Gly547Asp | |
| NM_001385750.1:c.1595G>A | NP_001372679.1:p.Gly532Asp | |
| NM_001385751.1:c.1595G>A | NP_001372680.1:p.Gly532Asp | |
| NM_001385752.1:c.1595G>A | NP_001372681.1:p.Gly532Asp | |
| NM_001385753.1:c.1595G>A | NP_001372682.1:p.Gly532Asp | |
| NM_001385754.1:c.1595G>A | NP_001372683.1:p.Gly532Asp | |
| NM_001385755.1:c.1595G>A | NP_001372684.1:p.Gly532Asp | |
| NM_001385756.1:c.1595G>A | NP_001372685.1:p.Gly532Asp | |
| NM_001385757.1:c.1595G>A | NP_001372686.1:p.Gly532Asp | |
| NM_001385758.1:c.1547G>A | NP_001372687.1:p.Gly516Asp | |
| NM_001385759.1:c.1547G>A | NP_001372688.1:p.Gly516Asp | |
| NM_001385760.1:c.1547G>A | NP_001372689.1:p.Gly516Asp | |
| NM_001385761.1:c.1547G>A | NP_001372690.1:p.Gly516Asp | |
| NM_001385762.1:c.1523G>A | NP_001372691.1:p.Gly508Asp | |
| NM_001385763.1:c.1505G>A | NP_001372692.1:p.Gly502Asp | |
| NM_001385764.1:c.1505G>A | NP_001372693.1:p.Gly502Asp | |
| NM_001385765.1:c.1505G>A | NP_001372694.1:p.Gly502Asp | |
| NM_001385766.1:c.1505G>A | NP_001372695.1:p.Gly502Asp | |
| NM_001385767.1:c.1505G>A | NP_001372696.1:p.Gly502Asp | |
| NM_001385768.1:c.1457G>A | NP_001372697.1:p.Gly486Asp | |
| NM_001385769.1:c.1457G>A | NP_001372698.1:p.Gly486Asp | |
| NM_001385770.1:c.1457G>A | NP_001372699.1:p.Gly486Asp | |
| NM_001385771.1:c.1436G>A | NP_001372700.1:p.Gly479Asp | |
| NM_001385772.1:c.1430G>A | NP_001372701.1:p.Gly477Asp | |
| NM_001385773.1:c.1412G>A | NP_001372702.1:p.Gly471Asp | |
| NM_001385774.1:c.1412G>A | NP_001372703.1:p.Gly471Asp | |
| NM_001385775.1:c.1412G>A | NP_001372704.1:p.Gly471Asp | |
| NM_001385776.1:c.1412G>A | NP_001372705.1:p.Gly471Asp | |
| NM_001385777.1:c.1412G>A | NP_001372706.1:p.Gly471Asp | |
| NM_001385778.1:c.1412G>A | NP_001372707.1:p.Gly471Asp | |
| NM_001385779.1:c.1412G>A | NP_001372708.1:p.Gly471Asp | |
| NM_001385780.1:c.1412G>A | NP_001372709.1:p.Gly471Asp | |
| NM_001385781.1:c.1412G>A | NP_001372710.1:p.Gly471Asp | |
| NM_001385782.1:c.1412G>A | NP_001372711.1:p.Gly471Asp | |
| NM_001385783.1:c.1412G>A | NP_001372712.1:p.Gly471Asp | |
| NM_001385784.1:c.1412G>A | NP_001372713.1:p.Gly471Asp | |
| NM_001385785.1:c.1412G>A | NP_001372714.1:p.Gly471Asp | |
| NM_001385786.1:c.1412G>A | NP_001372715.1:p.Gly471Asp | |
| NM_001385787.1:c.1364G>A | NP_001372716.1:p.Gly455Asp | |
| NM_001385788.1:c.1364G>A | NP_001372717.1:p.Gly455Asp | |
| NM_001385789.1:c.1364G>A | NP_001372718.1:p.Gly455Asp | |
| NM_001385790.1:c.1364G>A | NP_001372719.1:p.Gly455Asp | |
| NM_001385791.1:c.1364G>A | NP_001372720.1:p.Gly455Asp | |
| NM_001385792.1:c.1364G>A | NP_001372721.1:p.Gly455Asp | |
| NM_001385793.1:c.1364G>A | NP_001372722.1:p.Gly455Asp | |
| NM_001385794.1:c.1364G>A | NP_001372723.1:p.Gly455Asp | |
| NM_001385795.1:c.1364G>A | NP_001372724.1:p.Gly455Asp | |
| NM_001385796.1:c.1295G>A | NP_001372725.1:p.Gly432Asp | |
| NM_001385797.1:c.1268G>A | NP_001372726.1:p.Gly423Asp | |
| NM_001385798.1:c.1247G>A | NP_001372727.1:p.Gly416Asp | |
| NM_001385799.1:c.1247G>A | NP_001372728.1:p.Gly416Asp | |
| NM_001385800.1:c.1247G>A | NP_001372729.1:p.Gly416Asp | |
| NM_001385801.1:c.1205G>A | NP_001372730.1:p.Gly402Asp | |
| NR_169758.1:n.2784G>A | ||
| NR_169759.1:n.1913G>A | ||
| NR_169760.1:n.2691G>A | ||
| NR_169761.1:n.2174G>A | ||
| NR_169762.1:n.1772G>A |