Linked Data
ClinVar Variation Id:
498177
dbSNP Id:
rs150515195
ExAC:
22:35782863 C / T
gnomAD v2:
22-35782863-C-T
gnomAD v3:
22-35386870-C-T
gnomAD v4:
22-35386870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35386870C>T , CM000684.2:g.35386870C>T | GRCh38 |
| NC_000022.10:g.35782863C>T , CM000684.1:g.35782863C>T | GRCh37 |
| NC_000022.9:g.34112863C>T | NCBI36 |
| NG_023030.1:g.10804C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216117.9:c.330C>T MANE Select | ENSP00000216117.8:p.Ala110= | |
| ENST00000481190.2:c.*235C>T | ENSP00000503987.1:n.*235C>T | |
| ENST00000677931.1:c.145-2994C>T | ENSP00000502849.1:n.145-2994C>T | |
| ENST00000678411.1:c.43-106C>T | ENSP00000503526.1:n.43-106C>T | |
| ENST00000679074.1:c.330C>T | ENSP00000503459.1:p.Ala110= | |
| ENST00000216117.8:c.330C>T | ENSP00000216117.8:p.Ala110= | |
| ENST00000412893.5:c.330C>T | ENSP00000413316.1:p.Ala110= | |
| ENST00000481190.1:n.544C>T | ||
| NM_002133.2:c.330C>T | NP_002124.1:p.Ala110= | |
| NM_002133.3:c.330C>T MANE Select | NP_002124.1:p.Ala110= |