Linked Data
dbSNP Id:
rs748258962
ExAC:
2:50282169 G / A
gnomAD v2:
2-50282169-G-A
gnomAD v3:
2-50055031-G-A
gnomAD v4:
2-50055031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.50055031G>A , CM000664.2:g.50055031G>A | GRCh38 |
| NC_000002.11:g.50282169G>A , CM000664.1:g.50282169G>A | GRCh37 |
| NC_000002.10:g.50135673G>A | NCBI36 |
| NG_011878.1:g.982506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401669.7:c.3732C>T MANE Select | ENSP00000385017.2:p.Asn1244= | |
| ENST00000637889.1:n.899C>T | ||
| ENST00000637906.1:c.606-1441C>T | ENSP00000490198.1:n.606-1441C>T | |
| ENST00000342183.9:c.614-1441C>T | ENSP00000341184.5:n.614-1441C>T | |
| ENST00000401669.6:c.3732C>T | ENSP00000385017.2:p.Asn1244= | |
| ENST00000401710.5:c.627C>T | ENSP00000385580.2:p.Asn209= | |
| ENST00000404971.5:c.3852C>T | ENSP00000385142.1:p.Asn1284= | |
| ENST00000405472.7:c.3696C>T | ENSP00000434015.2:p.Asn1232= | |
| ENST00000406316.6:c.3719-1441C>T | ENSP00000384311.2:n.3719-1441C>T | |
| ENST00000611589.4:c.-119-1441C>T | ENSP00000483634.1:n.-119-1441C>T | |
| ENST00000625672.2:c.3708C>T | ENSP00000485887.1:p.Asn1236= | |
| ENST00000628364.2:c.627C>T | ENSP00000485815.1:p.Asn209= | |
| ENST00000630543.2:c.3708C>T | ENSP00000486879.1:p.Asn1236= | |
| ENST00000635264.1:n.541C>T | ||
| NM_001135659.1:c.3852C>T | NP_001129131.1:p.Asn1284= | |
| NM_004801.4:c.3719-1441C>T | NP_004792.1:n.3719-1441C>T | |
| NM_138735.2:c.614-1441C>T | NP_620072.1:n.614-1441C>T | |
| XM_005264642.2:c.3753C>T | XP_005264699.1:p.Asn1251= | |
| XM_005264643.2:c.3708C>T | XP_005264700.1:p.Asn1236= | |
| XM_006712137.2:c.3740-1441C>T | XP_006712200.1:n.3740-1441C>T | |
| XM_006712140.2:c.3753C>T | XP_006712203.1:p.Asn1251= | |
| XM_011533167.1:c.3753C>T | XP_011531469.1:p.Asn1251= | |
| XM_011533168.1:c.3750C>T | XP_011531470.1:p.Asn1250= | |
| XM_011533169.1:c.3741C>T | XP_011531471.1:p.Asn1247= | |
| XM_011533170.1:c.3735C>T | XP_011531472.1:p.Asn1245= | |
| XM_011533171.1:c.3732C>T | XP_011531473.1:p.Asn1244= | |
| XM_011533172.1:c.3726C>T | XP_011531474.1:p.Asn1242= | |
| XM_011533173.1:c.3723C>T | XP_011531475.1:p.Asn1241= | |
| XM_011533174.1:c.3708C>T | XP_011531476.1:p.Asn1236= | |
| XM_011533175.1:c.3696C>T | XP_011531477.1:p.Asn1232= | |
| XM_011533176.1:c.3693C>T | XP_011531478.1:p.Asn1231= | |
| XM_011533177.1:c.3740-1441C>T | XP_011531479.1:n.3740-1441C>T | |
| XM_011533178.1:c.3663C>T | XP_011531480.1:p.Asn1221= | |
| XM_011533179.1:c.3695-1441C>T | XP_011531481.1:n.3695-1441C>T | |
| XM_011533180.1:c.3753C>T | XP_011531482.1:p.Asn1251= | |
| XM_011533181.1:c.2958C>T | XP_011531483.1:p.Asn986= | |
| XM_011533182.1:c.2913C>T | XP_011531484.1:p.Asn971= | |
| XM_011533183.1:c.2886C>T | XP_011531485.1:p.Asn962= | |
| XM_011533184.1:c.2793C>T | XP_011531486.1:p.Asn931= | |
| NM_001135659.2:c.3852C>T | NP_001129131.1:p.Asn1284= | |
| NM_001330077.1:c.3708C>T | NP_001317006.1:p.Asn1236= | |
| NM_001330078.1:c.3732C>T | NP_001317007.1:p.Asn1244= | |
| NM_001330082.1:c.3708C>T | NP_001317011.1:p.Asn1236= | |
| NM_001330083.1:c.3653-1441C>T | NP_001317012.1:n.3653-1441C>T | |
| NM_001330084.1:c.3666C>T | NP_001317013.1:p.Asn1222= | |
| NM_001330085.1:c.3705C>T | NP_001317014.1:p.Asn1235= | |
| NM_001330086.1:c.3732C>T | NP_001317015.1:p.Asn1244= | |
| NM_001330087.1:c.3608-1441C>T | NP_001317016.1:n.3608-1441C>T | |
| NM_001330088.1:c.3638-1441C>T | NP_001317017.1:n.3638-1441C>T | |
| NM_001330091.1:c.627C>T | NP_001317020.1:p.Asn209= | |
| NM_001330092.1:c.627C>T | NP_001317021.1:p.Asn209= | |
| NM_001330093.1:c.3729C>T | NP_001317022.1:p.Asn1243= | |
| NM_001330094.1:c.3720C>T | NP_001317023.1:p.Asn1240= | |
| NM_001330095.1:c.3668-1441C>T | NP_001317024.1:n.3668-1441C>T | |
| NM_001330096.1:c.3608-1441C>T | NP_001317025.1:n.3608-1441C>T | |
| NM_001330097.1:c.614-1441C>T | NP_001317026.1:n.614-1441C>T | |
| NM_004801.5:c.3719-1441C>T | NP_004792.1:n.3719-1441C>T | |
| NM_138735.4:c.614-1441C>T | NP_620072.1:n.614-1441C>T | |
| XM_005264642.4:c.3753C>T | XP_005264699.1:p.Asn1251= | |
| XM_006712137.4:c.3740-1441C>T | XP_006712200.1:n.3740-1441C>T | |
| XM_006712140.4:c.3780C>T | XP_006712203.2:p.Asn1260= | |
| XM_011533167.3:c.3753C>T | XP_011531469.1:p.Asn1251= | |
| XM_011533172.3:c.3726C>T | XP_011531474.1:p.Asn1242= | |
| XM_011533175.3:c.3696C>T | XP_011531477.1:p.Asn1232= | |
| XM_011533177.3:c.3740-1441C>T | XP_011531479.1:n.3740-1441C>T | |
| XM_011533178.3:c.3663C>T | XP_011531480.1:p.Asn1221= | |
| XM_011533180.3:c.3753C>T | XP_011531482.1:p.Asn1251= | |
| XM_011533183.2:c.2886C>T | XP_011531485.1:p.Asn962= | |
| XM_017005303.2:c.3780C>T | XP_016860792.1:p.Asn1260= | |
| XM_017005304.2:c.3777C>T | XP_016860793.1:p.Asn1259= | |
| XM_017005305.2:c.3780C>T | XP_016860794.1:p.Asn1260= | |
| XM_017005306.2:c.3768C>T | XP_016860795.1:p.Asn1256= | |
| XM_017005307.2:c.3762C>T | XP_016860796.1:p.Asn1254= | |
| XM_017005308.2:c.3759C>T | XP_016860797.1:p.Asn1253= | |
| XM_017005309.2:c.3753C>T | XP_016860798.1:p.Asn1251= | |
| XM_017005310.2:c.3750C>T | XP_016860799.1:p.Asn1250= | |
| XM_017005311.2:c.3735C>T | XP_016860800.1:p.Asn1245= | |
| XM_017005314.2:c.3720C>T | XP_016860803.1:p.Asn1240= | |
| XM_017005315.2:c.3726C>T | XP_016860804.1:p.Asn1242= | |
| XM_017005316.2:c.3717C>T | XP_016860805.1:p.Asn1239= | |
| XM_017005318.2:c.3708C>T | XP_016860807.1:p.Asn1236= | |
| XM_017005320.2:c.3705C>T | XP_016860809.1:p.Asn1235= | |
| XM_017005321.2:c.3767-1441C>T | XP_016860810.1:n.3767-1441C>T | |
| XM_017005322.2:c.3767-1441C>T | XP_016860811.1:n.3767-1441C>T | |
| XM_017005324.2:c.3713-1441C>T | XP_016860813.1:n.3713-1441C>T | |
| XM_017005325.2:c.3713-1441C>T | XP_016860814.1:n.3713-1441C>T | |
| XM_017005326.2:c.3701-1441C>T | XP_016860815.1:n.3701-1441C>T | |
| XM_017005327.2:c.3695-1441C>T | XP_016860816.1:n.3695-1441C>T | |
| XM_017005329.2:c.3780C>T | XP_016860818.1:p.Asn1260= | |
| XM_017005334.2:c.2820C>T | XP_016860823.1:p.Asn940= | |
| NM_001330078.2:c.3732C>T MANE Select | NP_001317007.1:p.Asn1244= | |
| NM_001135659.3:c.3852C>T | NP_001129131.1:p.Asn1284= | |
| NM_001330077.2:c.3708C>T | NP_001317006.1:p.Asn1236= | |
| NM_001330082.2:c.3708C>T | NP_001317011.1:p.Asn1236= | |
| NM_001330083.2:c.3653-1441C>T | NP_001317012.1:n.3653-1441C>T | |
| NM_001330084.2:c.3666C>T | NP_001317013.1:p.Asn1222= | |
| NM_001330085.2:c.3705C>T | NP_001317014.1:p.Asn1235= | |
| NM_001330086.2:c.3732C>T | NP_001317015.1:p.Asn1244= | |
| NM_001330087.2:c.3608-1441C>T | NP_001317016.1:n.3608-1441C>T | |
| NM_001330088.2:c.3638-1441C>T | NP_001317017.1:n.3638-1441C>T | |
| NM_001330091.2:c.627C>T | NP_001317020.1:p.Asn209= | |
| NM_001330092.2:c.627C>T | NP_001317021.1:p.Asn209= | |
| NM_001330093.2:c.3729C>T | NP_001317022.1:p.Asn1243= | |
| NM_001330094.2:c.3720C>T | NP_001317023.1:p.Asn1240= | |
| NM_001330095.2:c.3668-1441C>T | NP_001317024.1:n.3668-1441C>T | |
| NM_001330096.2:c.3608-1441C>T | NP_001317025.1:n.3608-1441C>T | |
| NM_001330097.2:c.614-1441C>T | NP_001317026.1:n.614-1441C>T | |
| NM_004801.6:c.3719-1441C>T | NP_004792.1:n.3719-1441C>T | |
| NM_138735.5:c.614-1441C>T | NP_620072.1:n.614-1441C>T |