Linked Data
ClinVar Variation Id:
2416226
dbSNP Id:
rs746160626
gnomAD v2:
16-2138274-A-G
gnomAD v4:
16-2088273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088273A>G , CM000678.2:g.2088273A>G | GRCh38 |
| NC_000016.9:g.2138274A>G , CM000678.1:g.2138274A>G | GRCh37 |
| NC_000016.8:g.2078275A>G | NCBI36 |
| NG_005895.1:g.43968A>G , LRG_487:g.43968A>G | |
| NG_008617.1:g.54948T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3556A>G | ENSP00000455997.2:n.*3556A>G | |
| ENST00000642206.2:c.5054A>G | ENSP00000495146.2:p.Tyr1685Cys | |
| ENST00000642365.2:c.5204A>G | ENSP00000495459.2:p.Tyr1735Cys | |
| ENST00000644417.2:c.*5720A>G | ENSP00000493912.2:n.*5720A>G | |
| ENST00000646464.2:c.*7956A>G | ENSP00000496610.2:n.*7956A>G | |
| ENST00000219476.9:c.5207A>G MANE Select | ENSP00000219476.3:p.Tyr1736Cys | |
| ENST00000350773.9:c.5138A>G | ENSP00000344383.4:p.Tyr1713Cys | |
| ENST00000401874.7:c.5006A>G | ENSP00000384468.2:p.Tyr1669Cys | |
| ENST00000568454.6:c.5039A>G | ENSP00000454487.1:p.Tyr1680Cys | |
| ENST00000569110.2:c.1430A>G | ||
| ENST00000569930.2:n.3089A>G | ||
| ENST00000642365.1:c.3861A>G | ||
| ENST00000642561.1:c.5066A>G | ENSP00000495099.1:p.Tyr1689Cys | |
| ENST00000642791.1:n.804A>G | ||
| ENST00000642797.1:c.5009A>G | ENSP00000493846.1:p.Tyr1670Cys | |
| ENST00000642936.1:c.5075A>G | ENSP00000494514.1:p.Tyr1692Cys | |
| ENST00000643088.1:c.5000A>G | ENSP00000494747.1:p.Tyr1667Cys | |
| ENST00000643426.1:n.2855A>G | ||
| ENST00000643946.1:c.5132A>G | ENSP00000495927.1:p.Tyr1711Cys | |
| ENST00000644043.1:c.5078A>G | ENSP00000496262.1:p.Tyr1693Cys | |
| ENST00000644329.1:c.5093A>G | ENSP00000496611.1:p.Tyr1698Cys | |
| ENST00000644335.1:c.5003A>G | ENSP00000496317.1:p.Tyr1668Cys | |
| ENST00000644399.1:c.5128A>G | ||
| ENST00000645024.1:n.3291A>G | ||
| ENST00000646388.1:c.5201A>G | ENSP00000495921.1:p.Tyr1734Cys | |
| ENST00000646634.1:n.4022A>G | ||
| ENST00000646674.1:n.2459A>G | ||
| ENST00000647042.1:n.2430A>G | ||
| ENST00000647180.1:n.2320A>G | ||
| ENST00000219476.7:c.5207A>G | ENSP00000219476.3:p.Tyr1736Cys | |
| ENST00000350773.8:c.5138A>G | ENSP00000344383.4:p.Tyr1713Cys | |
| ENST00000382538.10:c.4862A>G | ENSP00000371978.6:p.Tyr1621Cys | |
| ENST00000401874.6:c.5006A>G | ENSP00000384468.2:p.Tyr1669Cys | |
| ENST00000439117.6:c.*4374A>G | ENSP00000406980.2:n.*4374A>G | |
| ENST00000439673.6:c.4898A>G | ENSP00000399232.2:p.Tyr1633Cys | |
| ENST00000497886.5:n.2930A>G | ||
| ENST00000568454.5:c.5039A>G | ENSP00000454487.1:p.Tyr1680Cys | |
| ENST00000569110.1:c.1389A>G | ||
| ENST00000569930.1:n.2322A>G | ||
| NM_000548.3:c.5207A>G , LRG_487t1:c.5207A>G | NP_000539.2:p.Tyr1736Cys | |
| NM_001077183.1:c.5006A>G | NP_001070651.1:p.Tyr1669Cys | |
| NM_001114382.1:c.5138A>G | NP_001107854.1:p.Tyr1713Cys | |
| XM_005255529.3:c.5078A>G | XP_005255586.2:p.Tyr1693Cys | |
| XM_005255531.3:c.5009A>G | XP_005255588.2:p.Tyr1670Cys | |
| XM_011522636.1:c.5261A>G | XP_011520938.1:p.Tyr1754Cys | |
| XM_011522637.1:c.5258A>G | XP_011520939.1:p.Tyr1753Cys | |
| XM_011522638.1:c.5150A>G | XP_011520940.1:p.Tyr1717Cys | |
| XM_011522639.1:c.5132A>G | XP_011520941.1:p.Tyr1711Cys | |
| XM_011522640.1:c.5129A>G | XP_011520942.1:p.Tyr1710Cys | |
| XM_011522641.1:c.4898A>G | XP_011520943.1:p.Tyr1633Cys | |
| NM_000548.4:c.5207A>G | NP_000539.2:p.Tyr1736Cys | |
| NM_001077183.2:c.5006A>G | NP_001070651.1:p.Tyr1669Cys | |
| NM_001114382.2:c.5138A>G | NP_001107854.1:p.Tyr1713Cys | |
| NM_001318827.1:c.4898A>G | NP_001305756.1:p.Tyr1633Cys | |
| NM_001318829.1:c.4862A>G | NP_001305758.1:p.Tyr1621Cys | |
| NM_001318831.1:c.4475A>G | NP_001305760.1:p.Tyr1492Cys | |
| NM_001318832.1:c.5039A>G | NP_001305761.1:p.Tyr1680Cys | |
| NM_001363528.1:c.5009A>G | NP_001350457.1:p.Tyr1670Cys | |
| NM_021055.2:c.5078A>G | NP_066399.2:p.Tyr1693Cys | |
| XM_005255531.4:c.5009A>G | XP_005255588.2:p.Tyr1670Cys | |
| XM_011522636.2:c.5261A>G | XP_011520938.1:p.Tyr1754Cys | |
| XM_011522637.2:c.5258A>G | XP_011520939.1:p.Tyr1753Cys | |
| XM_011522638.2:c.5423A>G | XP_011520940.2:p.Tyr1808Cys | |
| XM_011522639.2:c.5132A>G | XP_011520941.1:p.Tyr1711Cys | |
| XM_011522640.2:c.5129A>G | XP_011520942.1:p.Tyr1710Cys | |
| XM_017023615.1:c.5204A>G | XP_016879104.1:p.Tyr1735Cys | |
| XM_017023616.1:c.5075A>G | XP_016879105.1:p.Tyr1692Cys | |
| XM_017023617.1:c.5171A>G | XP_016879106.1:p.Tyr1724Cys | |
| XM_017023618.1:c.3917A>G | XP_016879107.1:p.Tyr1306Cys | |
| XM_024450413.1:c.5093A>G | XP_024306181.1:p.Tyr1698Cys | |
| NM_000548.5:c.5207A>G MANE Select | NP_000539.2:p.Tyr1736Cys | |
| NM_001370404.1:c.5075A>G | NP_001357333.1:p.Tyr1692Cys | |
| NM_001370405.1:c.5066A>G | NP_001357334.1:p.Tyr1689Cys | |
| NM_001077183.3:c.5006A>G | NP_001070651.1:p.Tyr1669Cys | |
| NM_001114382.3:c.5138A>G | NP_001107854.1:p.Tyr1713Cys | |
| NM_001318827.2:c.4898A>G | NP_001305756.1:p.Tyr1633Cys | |
| NM_001318829.2:c.4862A>G | NP_001305758.1:p.Tyr1621Cys | |
| NM_001318831.2:c.4475A>G | NP_001305760.1:p.Tyr1492Cys | |
| NM_001318832.2:c.5039A>G | NP_001305761.1:p.Tyr1680Cys | |
| NM_001363528.2:c.5009A>G | NP_001350457.1:p.Tyr1670Cys | |
| NM_021055.3:c.5078A>G | NP_066399.2:p.Tyr1693Cys |