Linked Data
ClinVar Variation Id:
341251
ClinVar RCV Id:
RCV000312958
dbSNP Id:
rs200206252
ExAC:
22:32487699 C / G
gnomAD v2:
22-32487699-C-G
gnomAD v4:
22-32091712-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32091712C>G , CM000684.2:g.32091712C>G | GRCh38 |
| NC_000022.10:g.32487699C>G , CM000684.1:g.32487699C>G | GRCh37 |
| NC_000022.9:g.30817699C>G | NCBI36 |
| NG_017045.1:g.53681C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1230C>G MANE Select | ENSP00000266088.4:p.Tyr410Ter | |
| ENST00000266088.8:c.1230C>G | ENSP00000266088.4:p.Tyr410Ter | |
| ENST00000477969.1:n.396C>G | ||
| ENST00000543737.2:c.849C>G | ENSP00000444898.1:p.Tyr283Ter | |
| NM_000343.3:c.1230C>G | NP_000334.1:p.Tyr410Ter | |
| NM_001256314.1:c.849C>G | NP_001243243.1:p.Tyr283Ter | |
| XM_011530331.1:c.1230C>G | XP_011528633.1:p.Tyr410Ter | |
| XR_938173.1:n.591+15126G>C | ||
| XR_938174.1:n.487-22909G>C | ||
| NM_000343.4:c.1230C>G MANE Select | NP_000334.1:p.Tyr410Ter | |
| NM_001256314.2:c.849C>G | NP_001243243.1:p.Tyr283Ter |