Linked Data
ClinVar Variation Id:
573146
ClinVar RCV Id:
RCV001307364
dbSNP Id:
rs1286509026
gnomAD v2:
X-73960818-A-G
gnomAD v4:
X-74740983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74740983A>G , CM000685.2:g.74740983A>G | GRCh38 |
| NC_000023.10:g.73960818A>G , CM000685.1:g.73960818A>G | GRCh37 |
| NC_000023.9:g.73877543A>G | NCBI36 |
| NG_027726.1:g.189470T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000055682.12:c.3574T>C MANE Select | ENSP00000055682.5:p.Ser1192Pro | |
| ENST00000616200.2:c.3574T>C | ENSP00000480284.1:p.Ser1192Pro | |
| ENST00000642681.2:c.3574T>C | ENSP00000495800.1:p.Ser1192Pro | |
| ENST00000055682.10:c.3574T>C | ENSP00000055682.5:p.Ser1192Pro | |
| ENST00000616200.1:c.3574T>C | ENSP00000480284.1:p.Ser1192Pro | |
| NM_001008537.2:c.3574T>C | NP_001008537.1:p.Ser1192Pro | |
| XM_011530935.1:c.3574T>C | XP_011529237.1:p.Ser1192Pro | |
| NM_001008537.3:c.3574T>C MANE Select | NP_001008537.1:p.Ser1192Pro |