Linked Data
ClinVar Variation Id:
355121
dbSNP Id:
rs565491418
ExAC:
6:116949384 T / C
gnomAD v2:
6-116949384-T-C
gnomAD v3:
6-116628221-T-C
gnomAD v4:
6-116628221-T-C
COSMIC:
COSM4586167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116628221T>C , CM000668.2:g.116628221T>C | GRCh38 |
| NC_000006.11:g.116949384T>C , CM000668.1:g.116949384T>C | GRCh37 |
| NC_000006.10:g.117056077T>C | NCBI36 |
| NG_012934.1:g.16743T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.1514T>C MANE Select | ENSP00000229554.5:p.Phe505Ser | |
| ENST00000229554.9:c.1514T>C | ENSP00000229554.5:p.Phe505Ser | |
| ENST00000368580.4:c.922-1346T>C | ENSP00000357569.4:n.922-1346T>C | |
| ENST00000368581.8:c.1514T>C | ENSP00000357570.4:p.Phe505Ser | |
| NM_001010892.2:c.1514T>C | NP_001010892.1:p.Phe505Ser | |
| NM_001161664.1:c.1514T>C | NP_001155136.1:p.Phe505Ser | |
| XM_006715469.2:c.1514T>C | XP_006715532.1:p.Phe505Ser | |
| XM_011535791.1:c.1514T>C | XP_011534093.1:p.Phe505Ser | |
| XM_011535792.1:c.1514T>C | XP_011534094.1:p.Phe505Ser | |
| XR_942416.1:n.4165T>C | ||
| XM_017010826.1:c.1514T>C | XP_016866315.1:p.Phe505Ser | |
| NM_001010892.3:c.1514T>C MANE Select | NP_001010892.1:p.Phe505Ser | |
| NM_001161664.2:c.1514T>C | NP_001155136.1:p.Phe505Ser |