Linked Data
ClinVar Variation Id:
1401055
dbSNP Id:
rs767385250
ExAC:
11:66281916 C / T
gnomAD v2:
11-66281916-C-T
gnomAD v3:
11-66514445-C-T
gnomAD v4:
11-66514445-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514445C>T , CM000673.2:g.66514445C>T | GRCh38 |
| NC_000011.9:g.66281916C>T , CM000673.1:g.66281916C>T | GRCh37 |
| NC_000011.8:g.66038492C>T | NCBI36 |
| NG_009093.1:g.8798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.199C>T MANE Select | ENSP00000317469.7:p.Arg67Cys | |
| ENST00000318312.11:c.199C>T | ENSP00000317469.7:p.Arg67Cys | |
| ENST00000393994.4:c.199C>T | ENSP00000377563.2:p.Arg67Cys | |
| ENST00000419755.3:c.310C>T | ENSP00000398526.3:p.Arg104Cys | |
| ENST00000455748.6:c.199C>T | ENSP00000405764.2:p.Arg67Cys | |
| ENST00000524458.5:c.74C>T | ENSP00000436195.1:p.Pro25Leu | |
| ENST00000524705.2:c.-20-61C>T | ENSP00000436927.1:n.-20-61C>T | |
| ENST00000524907.5:n.189C>T | ||
| ENST00000525809.5:c.160-1095C>T | ENSP00000431187.1:n.160-1095C>T | |
| ENST00000526035.5:c.164C>T | ENSP00000434197.1:p.Pro55Leu | |
| ENST00000526760.5:c.164C>T | ENSP00000432140.1:p.Pro55Leu | |
| ENST00000526815.5:c.109C>T | ENSP00000436860.1:p.Arg37Cys | |
| ENST00000527251.5:c.74C>T | ENSP00000434360.1:p.Pro25Leu | |
| ENST00000529766.5:n.206C>T | ||
| ENST00000529955.5:n.217C>T | ||
| ENST00000532908.5:c.164C>T | ENSP00000431866.1:p.Pro55Leu | |
| ENST00000533557.5:c.164C>T | ENSP00000434619.1:p.Pro55Leu | |
| ENST00000533644.5:c.199C>T | ENSP00000436073.1:p.Arg67Cys | |
| ENST00000534730.5:n.211C>T | ||
| ENST00000630659.2:c.164C>T | ENSP00000486455.1:p.Pro55Leu | |
| NM_024649.4:c.199C>T | NP_078925.3:p.Arg67Cys | |
| NM_024649.5:c.199C>T MANE Select | NP_078925.3:p.Arg67Cys |