Linked Data
ClinVar Variation Id:
286830
dbSNP Id:
rs739137
ExAC:
22:38122448 C / T
gnomAD v2:
22-38122448-C-T
gnomAD v3:
22-37726441-C-T
gnomAD v4:
22-37726441-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37726441C>T , CM000684.2:g.37726441C>T | GRCh38 |
| NC_000022.10:g.38122448C>T , CM000684.1:g.38122448C>T | GRCh37 |
| NC_000022.9:g.36452394C>T | NCBI36 |
| NG_012857.1:g.34454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3885C>T MANE Select | ENSP00000496394.1:p.Ser1295= | |
| ENST00000344404.10:c.*3368C>T | ENSP00000340312.6:n.*3368C>T | |
| ENST00000406386.7:c.3885C>T | ENSP00000384312.3:p.Ser1295= | |
| ENST00000455236.4:c.4842C>T | ENSP00000477208.1:n.4842C>T | |
| ENST00000492485.5:n.3819C>T | ||
| NM_001039141.2:c.3885C>T | NP_001034230.1:p.Ser1295= | |
| NM_001039141.3:c.3885C>T MANE Select | NP_001034230.1:p.Ser1295= |