Linked Data
ClinVar Variation Id:
158691
dbSNP Id:
rs370765411
gnomAD v2:
X-44969370-G-A
gnomAD v4:
X-45110125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45110125G>A , CM000685.2:g.45110125G>A | GRCh38 |
| NC_000023.10:g.44969370G>A , CM000685.1:g.44969370G>A | GRCh37 |
| NC_000023.9:g.44854314G>A | NCBI36 |
| NG_016260.1:g.241948G>A , LRG_616:g.241948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682908.1:c.3952G>A | ENSP00000508158.1:n.3952G>A | |
| ENST00000683021.1:c.3971G>A | ENSP00000507416.1:p.Arg1324Gln | |
| ENST00000683425.1:c.*3535G>A | ENSP00000507291.1:n.*3535G>A | |
| ENST00000684352.1:c.3982G>A | ENSP00000508379.1:n.3982G>A | |
| ENST00000377967.9:c.4052G>A | ENSP00000367203.4:p.Arg1351Gln | |
| ENST00000382899.9:c.4073G>A | ENSP00000372355.6:p.Arg1358Gln | |
| ENST00000431196.3:c.330G>A | ||
| ENST00000479423.2:n.3360G>A | ||
| ENST00000536777.6:c.3917G>A | ENSP00000437405.3:p.Arg1306Gln | |
| ENST00000543216.6:c.3815G>A | ENSP00000443078.3:p.Arg1272Gln | |
| ENST00000611820.5:c.4208G>A MANE Select | ENSP00000483595.2:p.Arg1403Gln | |
| ENST00000674541.1:c.*3340G>A | ENSP00000501919.1:n.*3340G>A | |
| ENST00000674564.1:c.*57G>A | ENSP00000502150.1:n.*57G>A | |
| ENST00000674586.1:c.4130G>A | ENSP00000502660.1:p.Arg1377Gln | |
| ENST00000674659.1:c.*3290G>A | ENSP00000502255.1:n.*3290G>A | |
| ENST00000674739.1:n.5110G>A | ||
| ENST00000674867.1:c.3914G>A | ENSP00000502060.1:p.Arg1305Gln | |
| ENST00000675157.1:n.3659G>A | ||
| ENST00000675182.1:n.4092G>A | ||
| ENST00000675514.1:c.*603G>A | ENSP00000502759.1:n.*603G>A | |
| ENST00000675525.1:n.6174G>A | ||
| ENST00000675546.1:n.10832G>A | ||
| ENST00000675577.1:c.3950G>A | ENSP00000501855.1:p.Arg1317Gln | |
| ENST00000675816.1:n.5096G>A | ||
| ENST00000676062.1:c.*234G>A | ENSP00000502311.1:n.*234G>A | |
| ENST00000676085.1:c.*3238G>A | ENSP00000501752.1:n.*3238G>A | |
| ENST00000676133.1:c.*4105G>A | ENSP00000502586.1:n.*4105G>A | |
| ENST00000676343.1:c.*160G>A | ENSP00000501761.1:n.*160G>A | |
| ENST00000676389.1:n.4495G>A | ||
| ENST00000377967.8:c.4052G>A | ENSP00000367203.4:p.Arg1351Gln | |
| ENST00000382899.8:c.4001G>A | ENSP00000372355.5:p.Arg1334Gln | |
| ENST00000414389.5:c.2844G>A | ||
| ENST00000431196.2:c.330G>A | ||
| ENST00000433797.5:c.2979G>A | ||
| ENST00000479423.1:n.644G>A | ||
| ENST00000536777.5:c.3845G>A | ENSP00000437405.2:p.Arg1282Gln | |
| ENST00000543216.5:c.*57G>A | ENSP00000443078.2:n.*57G>A | |
| ENST00000611820.4:c.4136G>A | ENSP00000483595.1:p.Arg1379Gln | |
| ENST00000621147.4:c.2722G>A | ENSP00000478793.1:n.2722G>A | |
| NM_001291415.1:c.4208G>A , LRG_616t1:c.4208G>A | NP_001278344.1:p.Arg1403Gln | |
| NM_001291416.1:c.4073G>A | NP_001278345.1:p.Arg1358Gln | |
| NM_001291417.1:c.3917G>A | NP_001278346.1:p.Arg1306Gln | |
| NM_001291418.1:c.3815G>A | NP_001278347.1:p.Arg1272Gln | |
| NM_001291421.1:c.3164G>A | NP_001278350.1:p.Arg1055Gln | |
| NM_021140.3:c.4052G>A | NP_066963.2:p.Arg1351Gln | |
| NR_111960.1:n.4316G>A | ||
| XM_005272656.3:c.4106G>A | XP_005272713.1:p.Arg1369Gln | |
| XM_005272659.3:c.3950G>A | XP_005272716.1:p.Arg1317Gln | |
| XM_011543957.1:c.4373G>A | XP_011542259.1:p.Arg1458Gln | |
| XM_011543958.1:c.4316G>A | XP_011542260.1:p.Arg1439Gln | |
| XM_011543959.1:c.4271G>A | XP_011542261.1:p.Arg1424Gln | |
| XM_011543960.1:c.4265G>A | XP_011542262.1:p.Arg1422Gln | |
| XM_011543961.1:c.4238G>A | XP_011542263.1:p.Arg1413Gln | |
| XM_011543962.1:c.4217G>A | XP_011542264.1:p.Arg1406Gln | |
| XM_011543963.1:c.4181G>A | XP_011542265.1:p.Arg1394Gln | |
| XM_011543964.1:c.4160G>A | XP_011542266.1:p.Arg1387Gln | |
| XM_011543965.1:c.4136G>A | XP_011542267.1:p.Arg1379Gln | |
| XM_011543966.1:c.4115G>A | XP_011542268.1:p.Arg1372Gln | |
| XM_011543967.1:c.4109G>A | XP_011542269.1:p.Arg1370Gln | |
| XM_011543968.1:c.4082G>A | XP_011542270.1:p.Arg1361Gln | |
| XM_011543969.1:c.4079G>A | XP_011542271.1:p.Arg1360Gln | |
| XM_011543970.1:c.4058G>A | XP_011542272.1:p.Arg1353Gln | |
| XM_011543971.1:c.4028G>A | XP_011542273.1:p.Arg1343Gln | |
| XM_011543972.1:c.4025G>A | XP_011542274.1:p.Arg1342Gln | |
| XM_011543973.1:c.3974G>A | XP_011542275.1:p.Arg1325Gln | |
| XM_011543975.1:c.3563G>A | XP_011542277.1:p.Arg1188Gln | |
| XM_005272656.5:c.4106G>A | XP_005272713.1:p.Arg1369Gln | |
| XM_005272659.5:c.3950G>A | XP_005272716.1:p.Arg1317Gln | |
| XM_011543958.3:c.4316G>A | XP_011542260.1:p.Arg1439Gln | |
| XM_011543963.3:c.4181G>A | XP_011542265.1:p.Arg1394Gln | |
| XM_011543964.3:c.4160G>A | XP_011542266.1:p.Arg1387Gln | |
| XM_011543969.3:c.4079G>A | XP_011542271.1:p.Arg1360Gln | |
| XM_011543970.3:c.4058G>A | XP_011542272.1:p.Arg1353Gln | |
| XM_011543972.3:c.4025G>A | XP_011542274.1:p.Arg1342Gln | |
| XM_011543975.2:c.3563G>A | XP_011542277.1:p.Arg1188Gln | |
| XM_017029783.2:c.3971G>A | XP_016885272.1:p.Arg1324Gln | |
| XM_017029784.1:c.3428G>A | XP_016885273.1:p.Arg1143Gln | |
| XM_017029785.1:c.3062G>A | XP_016885274.1:p.Arg1021Gln | |
| XM_024452438.1:c.4214G>A | XP_024308206.1:p.Arg1405Gln | |
| XM_024452439.1:c.3791G>A | XP_024308207.1:p.Arg1264Gln | |
| XR_002958804.1:n.4750G>A | ||
| NM_001291415.2:c.4208G>A MANE Select | NP_001278344.1:p.Arg1403Gln | |
| NM_001291416.2:c.4073G>A | NP_001278345.1:p.Arg1358Gln | |
| NM_001291417.2:c.3917G>A | NP_001278346.1:p.Arg1306Gln | |
| NM_001291418.2:c.3815G>A | NP_001278347.1:p.Arg1272Gln | |
| NM_001291421.2:c.3164G>A | NP_001278350.1:p.Arg1055Gln | |
| NM_021140.4:c.4052G>A | NP_066963.2:p.Arg1351Gln | |
| NR_111960.2:n.4303G>A |