gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26047078 (SAS)
Genomes Max Group AF
0.26047078 (SAS)
Exomes Max Group AF
0.01110501 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.72552528A>G , CM000676.2:g.72552528A>G | GRCh38 |
| NC_000014.8:g.73019236A>G , CM000676.1:g.73019236A>G | GRCh37 |
| NC_000014.7:g.72088989A>G | NCBI36 |
| NG_029236.1:g.625420A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553525.6:c.1423-9889A>G MANE Select | ENSP00000451030.1:n.1423-9889A>G | |
| ENST00000644463.1:c.55-762A>G | ENSP00000496764.1:n.55-762A>G | |
| ENST00000343854.10:c.1207-9889A>G | ENSP00000341199.7:n.1207-9889A>G | |
| ENST00000402788.6:c.1264-9889A>G | ENSP00000383953.3:n.1264-9889A>G | |
| ENST00000553525.5:c.1423-9889A>G | ENSP00000451030.1:n.1423-9889A>G | |
| ENST00000553530.5:c.1369-9889A>G | ENSP00000452331.1:n.1369-9889A>G | |
| ENST00000554300.1:n.34-9889A>G | ||
| ENST00000554474.5:c.*21-762A>G | ENSP00000450858.1:n.*21-762A>G | |
| ENST00000554782.1:c.1006-10187A>G | ENSP00000451912.1:n.1006-10187A>G | |
| ENST00000555571.5:c.1369-9889A>G | ENSP00000450936.1:n.1369-9889A>G | |
| ENST00000556437.5:c.1423-9889A>G | ENSP00000451855.1:n.1423-9889A>G | |
| ENST00000622468.4:c.1318-9889A>G | ENSP00000478186.1:n.1318-9889A>G | |
| NM_001204416.1:c.1423-9889A>G | NP_001191345.1:n.1423-9889A>G | |
| NM_001204417.1:c.1423-10187A>G | NP_001191346.1:n.1423-10187A>G | |
| NM_001204418.1:c.1369-10187A>G | NP_001191347.1:n.1369-10187A>G | |
| NM_001204419.1:c.1312-9889A>G | NP_001191348.1:n.1312-9889A>G | |
| NM_001204420.1:c.1258-9889A>G | NP_001191349.1:n.1258-9889A>G | |
| NM_001204421.1:c.1312-10187A>G | NP_001191350.1:n.1312-10187A>G | |
| NM_001204422.1:c.1258-10187A>G | NP_001191351.1:n.1258-10187A>G | |
| NM_001204423.1:c.1264-9889A>G | NP_001191352.1:n.1264-9889A>G | |
| NM_001204424.1:c.1423-9889A>G | NP_001191353.1:n.1423-9889A>G | |
| NM_004296.5:c.1369-9889A>G | NP_004287.3:n.1369-9889A>G | |
| XM_005268236.1:c.1369-9889A>G | XP_005268293.1:n.1369-9889A>G | |
| XM_011537388.1:c.1463-9889A>G | XP_011535690.1:n.1463-9889A>G | |
| XM_011537389.1:c.1574-9889A>G | XP_011535691.1:n.1574-9889A>G | |
| XM_011537390.1:c.1352-9889A>G | XP_011535692.1:n.1352-9889A>G | |
| XM_011537391.1:c.1463-9889A>G | XP_011535693.1:n.1463-9889A>G | |
| XM_011537392.1:c.*3+5161A>G | XP_011535694.1:n.*3+5161A>G | |
| XM_011537393.1:c.1394-9889A>G | XP_011535695.1:n.1394-9889A>G | |
| XM_011537394.1:c.1517+5161A>G | XP_011535696.1:n.1517+5161A>G | |
| XM_011537395.1:c.*19+5161A>G | XP_011535697.1:n.*19+5161A>G | |
| XM_011537397.1:c.1157-9889A>G | XP_011535699.1:n.1157-9889A>G | |
| XM_011537398.1:c.1157-9889A>G | XP_011535700.1:n.1157-9889A>G | |
| XM_011537399.1:c.1312-9889A>G | XP_011535701.1:n.1312-9889A>G | |
| XM_011537401.1:c.1258-9889A>G | XP_011535703.1:n.1258-9889A>G | |
| XM_011537403.1:c.*21-9889A>G | XP_011535705.1:n.*21-9889A>G | |
| XM_011537407.1:c.932-9889A>G | XP_011535709.1:n.932-9889A>G | |
| XR_943565.1:n.1604-762A>G | ||
| NM_001204416.2:c.1423-9889A>G | NP_001191345.1:n.1423-9889A>G | |
| NM_001204417.2:c.1423-10187A>G | NP_001191346.1:n.1423-10187A>G | |
| NM_001204418.2:c.1369-10187A>G | NP_001191347.1:n.1369-10187A>G | |
| NM_001204419.2:c.1312-9889A>G | NP_001191348.1:n.1312-9889A>G | |
| NM_001204420.2:c.1258-9889A>G | NP_001191349.1:n.1258-9889A>G | |
| NM_001204421.2:c.1312-10187A>G | NP_001191350.1:n.1312-10187A>G | |
| NM_001204422.2:c.1258-10187A>G | NP_001191351.1:n.1258-10187A>G | |
| NM_004296.6:c.1369-9889A>G | NP_004287.3:n.1369-9889A>G | |
| NR_135235.1:n.1704-762A>G | ||
| XM_011537393.2:c.1394-9889A>G | XP_011535695.1:n.1394-9889A>G | |
| XM_011537407.2:c.932-9889A>G | XP_011535709.1:n.932-9889A>G | |
| XM_017021819.1:c.1423-762A>G | XP_016877308.1:n.1423-762A>G | |
| XM_017021820.2:c.1463-9889A>G | XP_016877309.1:n.1463-9889A>G | |
| XM_017021822.2:c.1422+12434A>G | XP_016877311.1:n.1422+12434A>G | |
| XM_017021824.1:c.1312-762A>G | XP_016877313.1:n.1312-762A>G | |
| XM_017021825.2:c.1422+12434A>G | XP_016877314.1:n.1422+12434A>G | |
| XM_017021827.2:c.1422+12434A>G | XP_016877316.1:n.1422+12434A>G | |
| XM_017021829.1:c.*21-9889A>G | XP_016877318.1:n.*21-9889A>G | |
| XM_017021834.1:c.1006-10187A>G | XP_016877323.1:n.1006-10187A>G | |
| XM_024449759.1:c.1574-9889A>G | XP_024305527.1:n.1574-9889A>G | |
| XM_024449760.1:c.1574-9889A>G | XP_024305528.1:n.1574-9889A>G | |
| XM_024449761.1:c.1574-9889A>G | XP_024305529.1:n.1574-9889A>G | |
| XM_024449762.1:c.1423-762A>G | XP_024305530.1:n.1423-762A>G | |
| XM_024449763.1:c.1367-9889A>G | XP_024305531.1:n.1367-9889A>G | |
| XM_024449764.1:c.1367-9889A>G | XP_024305532.1:n.1367-9889A>G | |
| XM_024449765.1:c.1423-762A>G | XP_024305533.1:n.1423-762A>G | |
| XM_024449766.1:c.1423-762A>G | XP_024305534.1:n.1423-762A>G | |
| XM_024449767.1:c.*15-9889A>G | XP_024305535.1:n.*15-9889A>G | |
| XM_024449768.1:c.1312-762A>G | XP_024305536.1:n.1312-762A>G | |
| XM_024449769.1:c.1423-9889A>G | XP_024305537.1:n.1423-9889A>G | |
| XM_024449770.1:c.1423-10187A>G | XP_024305538.1:n.1423-10187A>G | |
| XM_024449771.1:c.1369-9889A>G | XP_024305539.1:n.1369-9889A>G | |
| XM_024449772.1:c.1369-9889A>G | XP_024305540.1:n.1369-9889A>G | |
| XM_024449773.1:c.1369-9889A>G | XP_024305541.1:n.1369-9889A>G | |
| XM_024449774.1:c.1369-10187A>G | XP_024305542.1:n.1369-10187A>G | |
| XM_024449775.1:c.*21-9889A>G | XP_024305543.1:n.*21-9889A>G | |
| XM_024449776.1:c.1312-9889A>G | XP_024305544.1:n.1312-9889A>G | |
| XM_024449777.1:c.1258-9889A>G | XP_024305545.1:n.1258-9889A>G | |
| XM_024449778.1:c.1258-9889A>G | XP_024305546.1:n.1258-9889A>G | |
| XR_001750613.2:n.1942-762A>G | ||
| XR_002957573.1:n.1892-9889A>G | ||
| NM_001204424.2:c.1423-9889A>G MANE Select | NP_001191353.1:n.1423-9889A>G | |
| NM_001204416.3:c.1423-9889A>G | NP_001191345.1:n.1423-9889A>G | |
| NM_001204417.3:c.1423-10187A>G | NP_001191346.1:n.1423-10187A>G | |
| NM_001204418.3:c.1369-10187A>G | NP_001191347.1:n.1369-10187A>G | |
| NM_001204419.3:c.1312-9889A>G | NP_001191348.1:n.1312-9889A>G | |
| NM_001204420.3:c.1258-9889A>G | NP_001191349.1:n.1258-9889A>G | |
| NM_001204421.3:c.1312-10187A>G | NP_001191350.1:n.1312-10187A>G | |
| NM_001204422.3:c.1258-10187A>G | NP_001191351.1:n.1258-10187A>G | |
| NM_001204423.2:c.1264-9889A>G | NP_001191352.1:n.1264-9889A>G | |
| NM_001370270.1:c.1423-762A>G | NP_001357199.1:n.1423-762A>G | |
| NM_001370271.1:c.1423-762A>G | NP_001357200.1:n.1423-762A>G | |
| NM_001370272.1:c.1423-762A>G | NP_001357201.1:n.1423-762A>G | |
| NM_001370273.1:c.1423-762A>G | NP_001357202.1:n.1423-762A>G | |
| NM_001370274.1:c.1423-762A>G | NP_001357203.1:n.1423-762A>G | |
| NM_001370275.1:c.1423-762A>G | NP_001357204.1:n.1423-762A>G | |
| NM_001370276.1:c.1423-762A>G | NP_001357205.1:n.1423-762A>G | |
| NM_001370277.1:c.1784+5161A>G | NP_001357206.1:n.1784+5161A>G | |
| NM_001370278.1:c.1574-9889A>G | NP_001357207.1:n.1574-9889A>G | |
| NM_001370279.1:c.1414-762A>G | NP_001357208.1:n.1414-762A>G | |
| NM_001370280.1:c.1448-9889A>G | NP_001357209.1:n.1448-9889A>G | |
| NM_001370281.1:c.1574-10187A>G | NP_001357210.1:n.1574-10187A>G | |
| NM_001370282.1:c.*15-9889A>G | NP_001357211.1:n.*15-9889A>G | |
| NM_001370283.1:c.1312-762A>G | NP_001357212.1:n.1312-762A>G | |
| NM_001370284.1:c.1423-9889A>G | NP_001357213.1:n.1423-9889A>G | |
| NM_001370286.1:c.1213-762A>G | NP_001357215.1:n.1213-762A>G | |
| NM_001370287.1:c.1369-9889A>G | NP_001357216.1:n.1369-9889A>G | |
| NM_001370288.1:c.1369-9889A>G | NP_001357217.1:n.1369-9889A>G | |
| NM_001370289.1:c.1369-9889A>G | NP_001357218.1:n.1369-9889A>G | |
| NM_001370290.1:c.*21-9889A>G | NP_001357219.1:n.*21-9889A>G | |
| NM_001370291.1:c.*21-9889A>G | NP_001357220.1:n.*21-9889A>G | |
| NM_001370292.1:c.1258-9889A>G | NP_001357221.1:n.1258-9889A>G | |
| NM_001370293.1:c.1258-9889A>G | NP_001357222.1:n.1258-9889A>G | |
| NM_001370294.1:c.1132-9889A>G | NP_001357223.1:n.1132-9889A>G | |
| NM_004296.7:c.1369-9889A>G | NP_004287.3:n.1369-9889A>G | |
| NR_135235.2:n.1520-762A>G |