Linked Data
ClinVar Variation Id:
2781867
ClinVar RCV Id:
RCV003662110
dbSNP Id:
rs760920540
ExAC:
1:179526216 A / G
gnomAD v2:
1-179526216-A-G
gnomAD v4:
1-179557081-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179557081A>G , CM000663.2:g.179557081A>G | GRCh38 |
| NC_000001.10:g.179526216A>G , CM000663.1:g.179526216A>G | GRCh37 |
| NC_000001.9:g.177792839A>G | NCBI36 |
| NG_007535.1:g.23869T>C , LRG_887:g.23869T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.684T>C MANE Select | ENSP00000356587.4:p.His228= | |
| ENST00000367615.8:c.684T>C | ENSP00000356587.4:p.His228= | |
| ENST00000367616.4:c.535-2550T>C | ENSP00000356588.4:n.535-2550T>C | |
| NM_001297575.1:c.535-2550T>C | NP_001284504.1:n.535-2550T>C | |
| NM_014625.3:c.684T>C , LRG_887t1:c.684T>C | NP_055440.1:p.His228= | |
| XM_005245483.2:c.507T>C | XP_005245540.1:p.His169= | |
| XM_006711529.2:c.684T>C | XP_006711592.1:p.His228= | |
| XM_005245483.3:c.507T>C | XP_005245540.1:p.His169= | |
| XM_017002298.1:c.461+2598T>C | XP_016857787.1:n.461+2598T>C | |
| XM_017002299.1:c.534+2598T>C | XP_016857788.1:n.534+2598T>C | |
| NM_001297575.2:c.535-2550T>C | NP_001284504.1:n.535-2550T>C | |
| NM_014625.4:c.684T>C MANE Select | NP_055440.1:p.His228= |