Linked Data
ClinVar Variation Id:
2505289
ClinVar RCV Id:
RCV003233466
dbSNP Id:
rs772609373
ExAC:
1:171621368 C / G
gnomAD v2:
1-171621368-C-G
gnomAD v4:
1-171652228-C-G
ERepo:
CA1244285/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652228C>G , CM000663.2:g.171652228C>G | GRCh38 |
| NC_000001.10:g.171621368C>G , CM000663.1:g.171621368C>G | GRCh37 |
| NC_000001.9:g.169887991C>G | NCBI36 |
| NG_008859.1:g.5406G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.384G>C MANE Select | ENSP00000037502.5:p.Arg128= | |
| ENST00000638471.1:c.130+254G>C | ENSP00000491206.1:n.130+254G>C | |
| ENST00000037502.10:c.384G>C | ENSP00000037502.5:p.Arg128= | |
| ENST00000614688.1:c.384G>C | ENSP00000478680.1:p.Arg128= | |
| NM_000261.1:c.384G>C | NP_000252.1:p.Arg128= | |
| NM_000261.2:c.384G>C MANE Select | NP_000252.1:p.Arg128= |