Linked Data
ClinVar Variation Id:
525311
ClinVar RCV Id:
RCV000629364
dbSNP Id:
rs1554247978
gnomAD v4:
6-116616634-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116616634C>G , CM000668.2:g.116616634C>G | GRCh38 |
| NC_000006.11:g.116937797C>G , CM000668.1:g.116937797C>G | GRCh37 |
| NC_000006.10:g.117044490C>G | NCBI36 |
| NG_012934.1:g.5156C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.11C>G MANE Select | ENSP00000229554.5:p.Ser4Ter | |
| ENST00000229554.9:c.11C>G | ENSP00000229554.5:p.Ser4Ter | |
| ENST00000368580.4:c.11C>G | ENSP00000357569.4:p.Ser4Ter | |
| ENST00000368581.8:c.11C>G | ENSP00000357570.4:p.Ser4Ter | |
| NM_001010892.2:c.11C>G | NP_001010892.1:p.Ser4Ter | |
| NM_001161664.1:c.11C>G | NP_001155136.1:p.Ser4Ter | |
| XM_006715469.2:c.11C>G | XP_006715532.1:p.Ser4Ter | |
| XM_011535791.1:c.11C>G | XP_011534093.1:p.Ser4Ter | |
| XM_011535792.1:c.11C>G | XP_011534094.1:p.Ser4Ter | |
| XR_942416.1:n.2662C>G | ||
| XM_017010826.1:c.11C>G | XP_016866315.1:p.Ser4Ter | |
| NM_001010892.3:c.11C>G MANE Select | NP_001010892.1:p.Ser4Ter | |
| NM_001161664.2:c.11C>G | NP_001155136.1:p.Ser4Ter |