Linked Data
ClinVar Variation Id:
382919
ClinVar RCV Id:
RCV000436416
dbSNP Id:
rs1057521485
gnomAD v2:
X-40440282-C-T
gnomAD v4:
X-40581030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40581030C>T , CM000685.2:g.40581030C>T | GRCh38 |
| NC_000023.10:g.40440282C>T , CM000685.1:g.40440282C>T | GRCh37 |
| NC_000023.9:g.40325226C>T | NCBI36 |
| NG_008874.1:g.5067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378438.9:c.-36C>T | ENSP00000367697.5:n.-36C>T | |
| ENST00000423649.2:c.-36C>T | ENSP00000410105.2:n.-36C>T | |
| ENST00000436783.6:c.-111+1283C>T | ENSP00000403969.2:n.-111+1283C>T | |
| ENST00000486558.6:c.-133C>T | ENSP00000490706.1:n.-133C>T | |
| ENST00000487051.2:n.131C>T | ||
| ENST00000635734.1:c.-133C>T | ENSP00000489653.1:n.-133C>T | |
| ENST00000635774.1:c.-36C>T | ENSP00000490733.1:n.-36C>T | |
| ENST00000636196.1:c.-36C>T | ENSP00000490675.1:n.-36C>T | |
| ENST00000636251.1:c.-133C>T | ENSP00000489920.1:n.-133C>T | |
| ENST00000636287.1:c.-36C>T | ENSP00000490452.1:n.-36C>T | |
| ENST00000636409.1:c.-36C>T | ENSP00000489819.1:n.-36C>T | |
| ENST00000636574.1:c.-36C>T | ENSP00000490345.1:n.-36C>T | |
| ENST00000636580.2:c.-36C>T MANE Select | ENSP00000490083.1:n.-36C>T | |
| ENST00000636639.1:c.-36C>T | ENSP00000490382.1:n.-36C>T | |
| ENST00000636787.1:c.-36C>T | ENSP00000490954.1:n.-36C>T | |
| ENST00000636970.1:c.-133C>T | ENSP00000490462.1:n.-133C>T | |
| ENST00000637327.1:c.-133C>T | ENSP00000490558.1:n.-133C>T | |
| ENST00000637482.1:c.-133C>T | ENSP00000490532.1:n.-133C>T | |
| ENST00000637526.1:c.-152C>T | ENSP00000489845.1:n.-152C>T | |
| ENST00000637954.1:n.36C>T | ||
| ENST00000638153.1:c.-36C>T | ENSP00000490239.1:n.-36C>T | |
| ENST00000378438.8:c.-36C>T | ENSP00000367697.4:n.-36C>T | |
| ENST00000423649.1:c.20C>T | ||
| ENST00000436783.5:c.61C>T | ENSP00000403969.1:p.Arg21Cys | |
| ENST00000447485.5:c.20C>T | ||
| ENST00000486558.5:n.49C>T | ||
| NM_005765.2:c.-36C>T | NP_005756.2:n.-36C>T | |
| NM_005765.3:c.-36C>T MANE Select | NP_005756.2:n.-36C>T |