Linked Data
ClinVar Variation Id:
13263
ClinVar RCV Id:
RCV000014173
RCV000014174
RCV000547490
RCV000762801
RCV001730471
RCV001090933
RCV001196204
dbSNP Id:
rs121918487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121517378C>T , CM000672.2:g.121517378C>T | GRCh38 |
| NC_000010.10:g.123276892C>T , CM000672.1:g.123276892C>T | GRCh37 |
| NC_000010.9:g.123266882C>T | NCBI36 |
| NG_012449.1:g.86081G>A | |
| NG_012449.2:g.86081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1087+1304G>A MANE Plus Clinical | ENSP00000410294.2:n.1087+1304G>A | |
| ENST00000351936.11:c.1025G>A | ENSP00000309878.10:p.Cys342Tyr | |
| ENST00000638709.2:c.-146G>A | ENSP00000491912.2:n.-146G>A | |
| ENST00000682296.1:n.373G>A | ||
| ENST00000682400.1:n.680G>A | ||
| ENST00000682550.1:c.680G>A | ENSP00000507633.1:p.Cys227Tyr | |
| ENST00000682772.1:c.-146G>A | ENSP00000506848.1:n.-146G>A | |
| ENST00000683211.1:c.1025G>A | ENSP00000508257.1:p.Cys342Tyr | |
| ENST00000683250.1:c.404-13437G>A | ENSP00000506847.1:n.404-13437G>A | |
| ENST00000683418.1:n.3372G>A | ||
| ENST00000683678.1:n.1025G>A | ||
| ENST00000684153.1:c.680G>A | ENSP00000506937.1:p.Cys227Tyr | |
| ENST00000358487.10:c.1025G>A MANE Select | ENSP00000351276.6:p.Cys342Tyr | |
| ENST00000336553.10:c.758G>A | ENSP00000337665.6:p.Cys253Tyr | |
| ENST00000346997.6:c.1025G>A | ENSP00000263451.5:p.Cys342Tyr | |
| ENST00000351936.10:c.1031G>A | ENSP00000309878.9:p.Cys344Tyr | |
| ENST00000356226.8:c.680G>A | ENSP00000348559.4:p.Cys227Tyr | |
| ENST00000357555.9:c.758G>A | ENSP00000350166.5:p.Cys253Tyr | |
| ENST00000358487.9:c.1025G>A | ENSP00000351276.5:p.Cys342Tyr | |
| ENST00000360144.7:c.820+1304G>A | ENSP00000353262.3:n.820+1304G>A | |
| ENST00000369056.5:c.1087+1304G>A | ENSP00000358052.1:n.1087+1304G>A | |
| ENST00000369058.7:c.1087+1304G>A | ENSP00000358054.3:n.1087+1304G>A | |
| ENST00000369059.5:c.742+1304G>A | ENSP00000358055.1:n.742+1304G>A | |
| ENST00000369060.8:c.939+2601G>A | ENSP00000358056.4:n.939+2601G>A | |
| ENST00000369061.8:c.749-2059G>A | ENSP00000358057.4:n.749-2059G>A | |
| ENST00000457416.6:c.1087+1304G>A | ENSP00000410294.2:n.1087+1304G>A | |
| ENST00000463870.5:n.234G>A | ||
| ENST00000478859.5:c.341G>A | ENSP00000474011.1:p.Cys114Tyr | |
| ENST00000490349.5:n.1434G>A | ||
| ENST00000604236.5:c.*72G>A | ENSP00000474109.1:n.*72G>A | |
| ENST00000613048.4:c.758G>A | ENSP00000484154.1:p.Cys253Tyr | |
| NM_000141.4:c.1025G>A | NP_000132.3:p.Cys342Tyr | |
| NM_001144913.1:c.1087+1304G>A | NP_001138385.1:n.1087+1304G>A | |
| NM_001144914.1:c.749-2059G>A | NP_001138386.1:n.749-2059G>A | |
| NM_001144915.1:c.758G>A | NP_001138387.1:p.Cys253Tyr | |
| NM_001144916.1:c.680G>A | NP_001138388.1:p.Cys227Tyr | |
| NM_001144917.1:c.939+2601G>A | NP_001138389.1:n.939+2601G>A | |
| NM_001144918.1:c.680G>A | NP_001138390.1:p.Cys227Tyr | |
| NM_001144919.1:c.820+1304G>A | NP_001138391.1:n.820+1304G>A | |
| NM_022970.3:c.1087+1304G>A | NP_075259.4:n.1087+1304G>A | |
| NM_023029.2:c.758G>A | NP_075418.1:p.Cys253Tyr | |
| NR_073009.1:n.1475G>A | ||
| XM_006717708.2:c.1144+1304G>A | XP_006717771.1:n.1144+1304G>A | |
| XM_006717709.2:c.1082G>A | XP_006717772.1:p.Cys361Tyr | |
| XM_006717710.2:c.1144+1304G>A | XP_006717773.1:n.1144+1304G>A | |
| XM_006717711.2:c.877+1304G>A | XP_006717774.1:n.877+1304G>A | |
| XM_006717712.2:c.799+1304G>A | XP_006717775.1:n.799+1304G>A | |
| XM_006717713.2:c.1082G>A | XP_006717776.1:p.Cys361Tyr | |
| XM_011539510.1:c.341G>A | XP_011537812.1:p.Cys114Tyr | |
| NM_001320654.1:c.341G>A | NP_001307583.1:p.Cys114Tyr | |
| NM_001320658.1:c.1025G>A | NP_001307587.1:p.Cys342Tyr | |
| XM_006717708.3:c.1144+1304G>A | XP_006717771.1:n.1144+1304G>A | |
| XM_006717710.4:c.1144+1304G>A | XP_006717773.1:n.1144+1304G>A | |
| XM_017015920.2:c.1144+1304G>A | XP_016871409.1:n.1144+1304G>A | |
| XM_017015921.2:c.1082G>A | XP_016871410.1:p.Cys361Tyr | |
| XM_017015924.2:c.737G>A | XP_016871413.1:p.Cys246Tyr | |
| XM_017015925.2:c.737G>A | XP_016871414.1:p.Cys246Tyr | |
| XM_024447887.1:c.815G>A | XP_024303655.1:p.Cys272Tyr | |
| XM_024447888.1:c.877+1304G>A | XP_024303656.1:n.877+1304G>A | |
| XM_024447889.1:c.815G>A | XP_024303657.1:p.Cys272Tyr | |
| XM_024447890.1:c.877+1304G>A | XP_024303658.1:n.877+1304G>A | |
| XM_024447891.1:c.799+1304G>A | XP_024303659.1:n.799+1304G>A | |
| XM_024447892.1:c.-146G>A | XP_024303660.1:n.-146G>A | |
| NM_000141.5:c.1025G>A MANE Select | NP_000132.3:p.Cys342Tyr | |
| NM_001144917.2:c.939+2601G>A | NP_001138389.1:n.939+2601G>A | |
| NM_001144918.2:c.680G>A | NP_001138390.1:p.Cys227Tyr | |
| NM_001144919.2:c.820+1304G>A | NP_001138391.1:n.820+1304G>A | |
| NM_001320658.2:c.1025G>A | NP_001307587.1:p.Cys342Tyr | |
| NR_073009.2:n.1461G>A | ||
| NM_001144915.2:c.758G>A | NP_001138387.1:p.Cys253Tyr | |
| NM_001144916.2:c.680G>A | NP_001138388.1:p.Cys227Tyr | |
| NM_001320654.2:c.341G>A | NP_001307583.1:p.Cys114Tyr |