Linked Data
ClinVar Variation Id:
1156665
ClinVar RCV Id:
RCV001499446
dbSNP Id:
rs752092723
gnomAD v2:
10-52834363-C-A
gnomAD v4:
10-51074603-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.51074603C>A , CM000672.2:g.51074603C>A | GRCh38 |
| NC_000010.10:g.52834363C>A , CM000672.1:g.52834363C>A | GRCh37 |
| NC_000010.9:g.52504369C>A | NCBI36 |
| NG_029982.1:g.88453C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373976.9:c.13C>A | ENSP00000363087.4:p.Arg5= | |
| ENST00000373980.11:c.13C>A MANE Select | ENSP00000363092.5:p.Arg5= | |
| ENST00000401604.8:c.267-78561C>A | ENSP00000384200.4:n.267-78561C>A | |
| ENST00000643582.1:c.13C>A | ENSP00000495279.1:p.Arg5= | |
| ENST00000643704.1:c.13C>A | ENSP00000496551.1:p.Arg5= | |
| ENST00000645324.1:c.13C>A | ENSP00000494124.1:p.Arg5= | |
| ENST00000373980.8:c.13C>A | ENSP00000363092.4:p.Arg5= | |
| ENST00000373985.5:c.267-78561C>A | ENSP00000363097.2:n.267-78561C>A | |
| NM_001098512.2:c.267-78561C>A | NP_001091982.1:n.267-78561C>A | |
| NM_006258.3:c.13C>A | NP_006249.1:p.Arg5= | |
| XM_011539952.1:c.13C>A | XP_011538254.1:p.Arg5= | |
| NM_001098512.3:c.267-78561C>A | NP_001091982.1:n.267-78561C>A | |
| NM_006258.4:c.13C>A MANE Select | NP_006249.1:p.Arg5= | |
| XM_011539952.2:c.13C>A | XP_011538254.1:p.Arg5= | |
| NM_001374782.1:c.13C>A | NP_001361711.1:p.Arg5= |