Linked Data
ClinVar Variation Id:
2798733
ClinVar RCV Id:
RCV003753935
dbSNP Id:
rs1323578421
gnomAD v3:
12-51689066-C-T
gnomAD v4:
12-51689066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51689066C>T , CM000674.2:g.51689066C>T | GRCh38 |
| NC_000012.11:g.52082850C>T , CM000674.1:g.52082850C>T | GRCh37 |
| NC_000012.10:g.50369117C>T | NCBI36 |
| NG_021180.2:g.102831C>T | |
| NG_021180.3:g.104109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703687.1:n.2690C>T | ||
| ENST00000354534.11:c.706+217C>T MANE Plus Clinical | ENSP00000346534.4:n.706+217C>T | |
| ENST00000627620.5:c.676C>T MANE Select | ENSP00000487583.2:p.Arg226Ter | |
| ENST00000637709.2:c.*191C>T | ENSP00000490470.1:n.*191C>T | |
| ENST00000638820.1:c.676C>T | ENSP00000492157.1:p.Arg226Ter | |
| ENST00000662684.1:c.676C>T | ENSP00000499636.1:p.Arg226Ter | |
| ENST00000667214.1:c.706+217C>T | ENSP00000499724.1:n.706+217C>T | |
| ENST00000668547.1:c.676C>T | ENSP00000499691.1:p.Arg226Ter | |
| ENST00000354534.10:c.706+217C>T | ENSP00000346534.4:n.706+217C>T | |
| ENST00000355133.7:c.706+217C>T | ENSP00000347255.4:n.706+217C>T | |
| ENST00000545061.5:c.706+217C>T | ENSP00000440360.1:n.706+217C>T | |
| ENST00000550891.4:n.804C>T | ||
| ENST00000551216.2:c.226C>T | ENSP00000447567.2:p.Arg76Ter | |
| ENST00000599343.5:c.706+217C>T | ENSP00000476447.3:n.706+217C>T | |
| ENST00000627620.2:c.676C>T | ENSP00000487583.1:p.Arg226Ter | |
| NM_001177984.2:c.706+217C>T | NP_001171455.1:n.706+217C>T | |
| NM_014191.3:c.706+217C>T | NP_055006.1:n.706+217C>T | |
| XM_006719556.2:c.676C>T | XP_006719619.1:p.Arg226Ter | |
| XM_011538650.1:c.676C>T | XP_011536952.1:p.Arg226Ter | |
| XM_011538651.1:c.676C>T | XP_011536953.1:p.Arg226Ter | |
| NM_001330260.1:c.676C>T | NP_001317189.1:p.Arg226Ter | |
| XM_006719556.4:c.676C>T | XP_006719619.1:p.Arg226Ter | |
| XM_011538651.3:c.676C>T | XP_011536953.1:p.Arg226Ter | |
| XM_017019794.2:c.706+217C>T | XP_016875283.1:n.706+217C>T | |
| XM_017019795.2:c.676C>T | XP_016875284.1:p.Arg226Ter | |
| XM_017019796.1:c.676C>T | XP_016875285.1:p.Arg226Ter | |
| NM_001330260.2:c.676C>T MANE Select | NP_001317189.1:p.Arg226Ter | |
| NM_001369788.1:c.676C>T | NP_001356717.1:p.Arg226Ter | |
| NM_014191.4:c.706+217C>T MANE Plus Clinical | NP_055006.1:n.706+217C>T | |
| NM_001177984.3:c.706+217C>T | NP_001171455.1:n.706+217C>T |