Linked Data
ClinVar Variation Id:
1431380
ClinVar RCV Id:
RCV001948636
dbSNP Id:
rs1324954305
gnomAD v2:
2-50282143-C-T
gnomAD v4:
2-50055005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.50055005C>T , CM000664.2:g.50055005C>T | GRCh38 |
| NC_000002.11:g.50282143C>T , CM000664.1:g.50282143C>T | GRCh37 |
| NC_000002.10:g.50135647C>T | NCBI36 |
| NG_011878.1:g.982532G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401669.7:c.3758G>A MANE Select | ENSP00000385017.2:p.Arg1253Gln | |
| ENST00000637889.1:n.925G>A | ||
| ENST00000637906.1:c.606-1415G>A | ENSP00000490198.1:n.606-1415G>A | |
| ENST00000342183.9:c.614-1415G>A | ENSP00000341184.5:n.614-1415G>A | |
| ENST00000401669.6:c.3758G>A | ENSP00000385017.2:p.Arg1253Gln | |
| ENST00000401710.5:c.653G>A | ENSP00000385580.2:p.Arg218Gln | |
| ENST00000404971.5:c.3878G>A | ENSP00000385142.1:p.Arg1293Gln | |
| ENST00000405472.7:c.3722G>A | ENSP00000434015.2:p.Arg1241Gln | |
| ENST00000406316.6:c.3719-1415G>A | ENSP00000384311.2:n.3719-1415G>A | |
| ENST00000611589.4:c.-119-1415G>A | ENSP00000483634.1:n.-119-1415G>A | |
| ENST00000625672.2:c.3734G>A | ENSP00000485887.1:p.Arg1245Gln | |
| ENST00000628364.2:c.653G>A | ENSP00000485815.1:p.Arg218Gln | |
| ENST00000630543.2:c.3734G>A | ENSP00000486879.1:p.Arg1245Gln | |
| ENST00000635264.1:n.567G>A | ||
| NM_001135659.1:c.3878G>A | NP_001129131.1:p.Arg1293Gln | |
| NM_004801.4:c.3719-1415G>A | NP_004792.1:n.3719-1415G>A | |
| NM_138735.2:c.614-1415G>A | NP_620072.1:n.614-1415G>A | |
| XM_005264642.2:c.3779G>A | XP_005264699.1:p.Arg1260Gln | |
| XM_005264643.2:c.3734G>A | XP_005264700.1:p.Arg1245Gln | |
| XM_006712137.2:c.3740-1415G>A | XP_006712200.1:n.3740-1415G>A | |
| XM_006712140.2:c.3779G>A | XP_006712203.1:p.Arg1260Gln | |
| XM_011533167.1:c.3779G>A | XP_011531469.1:p.Arg1260Gln | |
| XM_011533168.1:c.3776G>A | XP_011531470.1:p.Arg1259Gln | |
| XM_011533169.1:c.3767G>A | XP_011531471.1:p.Arg1256Gln | |
| XM_011533170.1:c.3761G>A | XP_011531472.1:p.Arg1254Gln | |
| XM_011533171.1:c.3758G>A | XP_011531473.1:p.Arg1253Gln | |
| XM_011533172.1:c.3752G>A | XP_011531474.1:p.Arg1251Gln | |
| XM_011533173.1:c.3749G>A | XP_011531475.1:p.Arg1250Gln | |
| XM_011533174.1:c.3734G>A | XP_011531476.1:p.Arg1245Gln | |
| XM_011533175.1:c.3722G>A | XP_011531477.1:p.Arg1241Gln | |
| XM_011533176.1:c.3719G>A | XP_011531478.1:p.Arg1240Gln | |
| XM_011533177.1:c.3740-1415G>A | XP_011531479.1:n.3740-1415G>A | |
| XM_011533178.1:c.3689G>A | XP_011531480.1:p.Arg1230Gln | |
| XM_011533179.1:c.3695-1415G>A | XP_011531481.1:n.3695-1415G>A | |
| XM_011533180.1:c.3779G>A | XP_011531482.1:p.Arg1260Gln | |
| XM_011533181.1:c.2984G>A | XP_011531483.1:p.Arg995Gln | |
| XM_011533182.1:c.2939G>A | XP_011531484.1:p.Arg980Gln | |
| XM_011533183.1:c.2912G>A | XP_011531485.1:p.Arg971Gln | |
| XM_011533184.1:c.2819G>A | XP_011531486.1:p.Arg940Gln | |
| NM_001135659.2:c.3878G>A | NP_001129131.1:p.Arg1293Gln | |
| NM_001330077.1:c.3734G>A | NP_001317006.1:p.Arg1245Gln | |
| NM_001330078.1:c.3758G>A | NP_001317007.1:p.Arg1253Gln | |
| NM_001330082.1:c.3734G>A | NP_001317011.1:p.Arg1245Gln | |
| NM_001330083.1:c.3653-1415G>A | NP_001317012.1:n.3653-1415G>A | |
| NM_001330084.1:c.3692G>A | NP_001317013.1:p.Arg1231Gln | |
| NM_001330085.1:c.3731G>A | NP_001317014.1:p.Arg1244Gln | |
| NM_001330086.1:c.3758G>A | NP_001317015.1:p.Arg1253Gln | |
| NM_001330087.1:c.3608-1415G>A | NP_001317016.1:n.3608-1415G>A | |
| NM_001330088.1:c.3638-1415G>A | NP_001317017.1:n.3638-1415G>A | |
| NM_001330091.1:c.653G>A | NP_001317020.1:p.Arg218Gln | |
| NM_001330092.1:c.653G>A | NP_001317021.1:p.Arg218Gln | |
| NM_001330093.1:c.3755G>A | NP_001317022.1:p.Arg1252Gln | |
| NM_001330094.1:c.3746G>A | NP_001317023.1:p.Arg1249Gln | |
| NM_001330095.1:c.3668-1415G>A | NP_001317024.1:n.3668-1415G>A | |
| NM_001330096.1:c.3608-1415G>A | NP_001317025.1:n.3608-1415G>A | |
| NM_001330097.1:c.614-1415G>A | NP_001317026.1:n.614-1415G>A | |
| NM_004801.5:c.3719-1415G>A | NP_004792.1:n.3719-1415G>A | |
| NM_138735.4:c.614-1415G>A | NP_620072.1:n.614-1415G>A | |
| XM_005264642.4:c.3779G>A | XP_005264699.1:p.Arg1260Gln | |
| XM_006712137.4:c.3740-1415G>A | XP_006712200.1:n.3740-1415G>A | |
| XM_006712140.4:c.3806G>A | XP_006712203.2:p.Arg1269Gln | |
| XM_011533167.3:c.3779G>A | XP_011531469.1:p.Arg1260Gln | |
| XM_011533172.3:c.3752G>A | XP_011531474.1:p.Arg1251Gln | |
| XM_011533175.3:c.3722G>A | XP_011531477.1:p.Arg1241Gln | |
| XM_011533177.3:c.3740-1415G>A | XP_011531479.1:n.3740-1415G>A | |
| XM_011533178.3:c.3689G>A | XP_011531480.1:p.Arg1230Gln | |
| XM_011533180.3:c.3779G>A | XP_011531482.1:p.Arg1260Gln | |
| XM_011533183.2:c.2912G>A | XP_011531485.1:p.Arg971Gln | |
| XM_017005303.2:c.3806G>A | XP_016860792.1:p.Arg1269Gln | |
| XM_017005304.2:c.3803G>A | XP_016860793.1:p.Arg1268Gln | |
| XM_017005305.2:c.3806G>A | XP_016860794.1:p.Arg1269Gln | |
| XM_017005306.2:c.3794G>A | XP_016860795.1:p.Arg1265Gln | |
| XM_017005307.2:c.3788G>A | XP_016860796.1:p.Arg1263Gln | |
| XM_017005308.2:c.3785G>A | XP_016860797.1:p.Arg1262Gln | |
| XM_017005309.2:c.3779G>A | XP_016860798.1:p.Arg1260Gln | |
| XM_017005310.2:c.3776G>A | XP_016860799.1:p.Arg1259Gln | |
| XM_017005311.2:c.3761G>A | XP_016860800.1:p.Arg1254Gln | |
| XM_017005314.2:c.3746G>A | XP_016860803.1:p.Arg1249Gln | |
| XM_017005315.2:c.3752G>A | XP_016860804.1:p.Arg1251Gln | |
| XM_017005316.2:c.3743G>A | XP_016860805.1:p.Arg1248Gln | |
| XM_017005318.2:c.3734G>A | XP_016860807.1:p.Arg1245Gln | |
| XM_017005320.2:c.3731G>A | XP_016860809.1:p.Arg1244Gln | |
| XM_017005321.2:c.3767-1415G>A | XP_016860810.1:n.3767-1415G>A | |
| XM_017005322.2:c.3767-1415G>A | XP_016860811.1:n.3767-1415G>A | |
| XM_017005324.2:c.3713-1415G>A | XP_016860813.1:n.3713-1415G>A | |
| XM_017005325.2:c.3713-1415G>A | XP_016860814.1:n.3713-1415G>A | |
| XM_017005326.2:c.3701-1415G>A | XP_016860815.1:n.3701-1415G>A | |
| XM_017005327.2:c.3695-1415G>A | XP_016860816.1:n.3695-1415G>A | |
| XM_017005329.2:c.3806G>A | XP_016860818.1:p.Arg1269Gln | |
| XM_017005334.2:c.2846G>A | XP_016860823.1:p.Arg949Gln | |
| NM_001330078.2:c.3758G>A MANE Select | NP_001317007.1:p.Arg1253Gln | |
| NM_001135659.3:c.3878G>A | NP_001129131.1:p.Arg1293Gln | |
| NM_001330077.2:c.3734G>A | NP_001317006.1:p.Arg1245Gln | |
| NM_001330082.2:c.3734G>A | NP_001317011.1:p.Arg1245Gln | |
| NM_001330083.2:c.3653-1415G>A | NP_001317012.1:n.3653-1415G>A | |
| NM_001330084.2:c.3692G>A | NP_001317013.1:p.Arg1231Gln | |
| NM_001330085.2:c.3731G>A | NP_001317014.1:p.Arg1244Gln | |
| NM_001330086.2:c.3758G>A | NP_001317015.1:p.Arg1253Gln | |
| NM_001330087.2:c.3608-1415G>A | NP_001317016.1:n.3608-1415G>A | |
| NM_001330088.2:c.3638-1415G>A | NP_001317017.1:n.3638-1415G>A | |
| NM_001330091.2:c.653G>A | NP_001317020.1:p.Arg218Gln | |
| NM_001330092.2:c.653G>A | NP_001317021.1:p.Arg218Gln | |
| NM_001330093.2:c.3755G>A | NP_001317022.1:p.Arg1252Gln | |
| NM_001330094.2:c.3746G>A | NP_001317023.1:p.Arg1249Gln | |
| NM_001330095.2:c.3668-1415G>A | NP_001317024.1:n.3668-1415G>A | |
| NM_001330096.2:c.3608-1415G>A | NP_001317025.1:n.3608-1415G>A | |
| NM_001330097.2:c.614-1415G>A | NP_001317026.1:n.614-1415G>A | |
| NM_004801.6:c.3719-1415G>A | NP_004792.1:n.3719-1415G>A | |
| NM_138735.5:c.614-1415G>A | NP_620072.1:n.614-1415G>A |