Linked Data
ClinVar Variation Id:
162610
ClinVar RCV Id:
RCV000150038
dbSNP Id:
rs727502863
gnomAD v4:
15-84652783-A-C
PubMed:
PMID:25466283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84652783A>C , CM000677.2:g.84652783A>C | GRCh38 |
| NC_000015.9:g.85196014A>C , CM000677.1:g.85196014A>C | GRCh37 |
| NC_000015.8:g.82997018A>C | NCBI36 |
| NG_042034.1:g.6561T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434634.7:c.129T>G MANE Select | ENSP00000387982.3:p.Tyr43Ter | |
| ENST00000398528.7:n.205T>G | ||
| ENST00000434634.6:c.129T>G | ENSP00000387982.2:p.Tyr43Ter | |
| ENST00000558019.5:n.145T>G | ||
| ENST00000558487.1:n.389T>G | ||
| ENST00000558521.5:c.128T>G | ||
| ENST00000559015.5:n.135T>G | ||
| ENST00000559126.5:n.635T>G | ||
| ENST00000559178.5:c.113T>G | ||
| ENST00000559224.5:c.121T>G | ||
| ENST00000559452.5:n.593T>G | ||
| ENST00000559877.5:n.321T>G | ||
| ENST00000559994.5:n.142T>G | ||
| ENST00000560088.5:n.139T>G | ||
| ENST00000560182.5:n.304T>G | ||
| ENST00000560252.5:n.153T>G | ||
| ENST00000560835.5:n.145T>G | ||
| ENST00000560966.5:n.1331T>G | ||
| ENST00000561329.5:n.129T>G | ||
| ENST00000561447.5:n.294T>G | ||
| NM_032856.3:c.129T>G | NP_116245.2:p.Tyr43Ter | |
| NR_130944.1:n.635T>G | ||
| NR_130945.1:n.198T>G | ||
| NR_130946.1:n.205T>G | ||
| NR_130947.1:n.198T>G | ||
| XR_243214.1:n.145T>G | ||
| XR_001751407.2:n.138T>G | ||
| XR_001751408.2:n.145T>G | ||
| XR_243214.3:n.145T>G | ||
| NM_032856.5:c.129T>G MANE Select | NP_116245.2:p.Tyr43Ter | |
| NR_130944.2:n.672T>G | ||
| NR_130945.2:n.138T>G | ||
| NR_130946.2:n.145T>G | ||
| NR_130947.2:n.138T>G |