Linked Data
ClinVar Variation Id:
2061290
ClinVar RCV Id:
RCV002942610
dbSNP Id:
rs201096554
ExAC:
16:89597193 C / T
gnomAD v2:
16-89597193-C-T
gnomAD v3:
16-89530785-C-T
gnomAD v4:
16-89530785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89530785C>T , CM000678.2:g.89530785C>T | GRCh38 |
| NC_000016.9:g.89597193C>T , CM000678.1:g.89597193C>T | GRCh37 |
| NC_000016.8:g.88124694C>T | NCBI36 |
| NG_008082.1:g.27389C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268704.7:c.964C>T | ENSP00000268704.3:p.Arg322Cys | |
| ENST00000561945.2:n.109C>T | ||
| ENST00000564047.2:n.2076C>T | ||
| ENST00000564409.2:c.1020C>T | ENSP00000495297.1:n.1020C>T | |
| ENST00000642334.1:c.837C>T | ||
| ENST00000642371.1:c.1043C>T | ||
| ENST00000642427.1:n.364C>T | ||
| ENST00000642436.1:n.389-10159C>T | ||
| ENST00000643105.1:c.884C>T | ||
| ENST00000643178.1:n.509C>T | ||
| ENST00000643307.1:c.964C>T | ENSP00000495673.1:p.Arg322Cys | |
| ENST00000643345.1:c.*488C>T | ENSP00000493982.1:n.*488C>T | |
| ENST00000643370.1:c.301C>T | ENSP00000494895.1:p.Arg101Cys | |
| ENST00000643496.1:n.781C>T | ||
| ENST00000643649.1:c.964C>T | ENSP00000494806.1:p.Arg322Cys | |
| ENST00000643668.1:c.*1258C>T | ENSP00000494903.1:n.*1258C>T | |
| ENST00000643724.1:c.*474C>T | ENSP00000496335.1:n.*474C>T | |
| ENST00000643954.1:c.702C>T | ||
| ENST00000644210.1:c.964C>T | ENSP00000495675.1:p.Arg322Cys | |
| ENST00000644225.1:n.981C>T | ||
| ENST00000644498.1:c.964C>T | ENSP00000496244.1:p.Arg322Cys | |
| ENST00000644671.1:c.621C>T | ||
| ENST00000644748.1:n.2395C>T | ||
| ENST00000644751.1:c.366C>T | ||
| ENST00000644781.1:c.964C>T | ENSP00000495473.1:p.Arg322Cys | |
| ENST00000644901.1:c.*917C>T | ENSP00000493797.1:n.*917C>T | |
| ENST00000645042.1:c.964C>T | ENSP00000493908.1:p.Arg322Cys | |
| ENST00000645063.1:c.964C>T | ENSP00000493590.1:p.Arg322Cys | |
| ENST00000645354.1:c.1724C>T | ||
| ENST00000645533.1:c.964C>T | ENSP00000495690.1:p.Arg322Cys | |
| ENST00000645818.2:c.964C>T MANE Select | ENSP00000495795.2:p.Arg322Cys | |
| ENST00000645886.1:c.191C>T | ||
| ENST00000645897.1:c.964C>T | ENSP00000495293.1:p.Arg322Cys | |
| ENST00000645977.1:n.2082C>T | ||
| ENST00000646263.1:c.964C>T | ENSP00000494119.1:p.Arg322Cys | |
| ENST00000646303.1:c.832C>T | ENSP00000494160.1:p.Arg278Cys | |
| ENST00000646399.1:c.647C>T | ||
| ENST00000646445.1:c.183-13863C>T | ||
| ENST00000646454.1:n.538C>T | ||
| ENST00000646531.1:c.964C>T | ENSP00000495185.1:p.Arg322Cys | |
| ENST00000646589.1:c.*92C>T | ENSP00000494739.1:n.*92C>T | |
| ENST00000646716.1:c.377-13863C>T | ENSP00000495593.1:n.377-13863C>T | |
| ENST00000646826.1:c.964C>T | ENSP00000495123.1:p.Arg322Cys | |
| ENST00000646930.1:c.964C>T | ENSP00000495219.1:p.Arg322Cys | |
| ENST00000646958.1:n.914C>T | ||
| ENST00000647032.1:c.579C>T | ||
| ENST00000647079.1:c.556C>T | ENSP00000495967.1:p.Arg186Cys | |
| ENST00000647227.1:c.727C>T | ||
| ENST00000268704.6:c.964C>T | ENSP00000268704.2:p.Arg322Cys | |
| ENST00000341316.6:c.964C>T | ENSP00000341157.2:p.Arg322Cys | |
| ENST00000564409.1:n.423C>T | ||
| ENST00000620811.4:c.-613C>T | ENSP00000478030.1:n.-613C>T | |
| NM_003119.3:c.964C>T | NP_003110.1:p.Arg322Cys | |
| NM_199367.2:c.964C>T | NP_955399.1:p.Arg322Cys | |
| XM_005256321.3:c.964C>T | XP_005256378.1:p.Arg322Cys | |
| XM_006721264.2:c.964C>T | XP_006721327.1:p.Arg322Cys | |
| XM_011523306.1:c.964C>T | XP_011521608.1:p.Arg322Cys | |
| XM_011523307.1:c.964C>T | XP_011521609.1:p.Arg322Cys | |
| NM_001363850.1:c.964C>T | NP_001350779.1:p.Arg322Cys | |
| XM_005256321.4:c.964C>T | XP_005256378.1:p.Arg322Cys | |
| XM_006721264.4:c.964C>T | XP_006721327.1:p.Arg322Cys | |
| XM_017023597.1:c.964C>T | XP_016879086.1:p.Arg322Cys | |
| XM_017023598.1:c.964C>T | XP_016879087.1:p.Arg322Cys | |
| XR_001751971.2:n.1003C>T | ||
| XR_001751972.2:n.1003C>T | ||
| NM_003119.4:c.964C>T MANE Select | NP_003110.1:p.Arg322Cys | |
| NM_199367.3:c.964C>T | NP_955399.1:p.Arg322Cys |