Linked Data
ClinVar Variation Id:
236186
ClinVar RCV Id:
RCV000225036
dbSNP Id:
rs878853213
gnomAD v2:
1-179533783-A-C
gnomAD v3:
1-179564648-A-C
gnomAD v4:
1-179564648-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179564648A>C , CM000663.2:g.179564648A>C | GRCh38 |
| NC_000001.10:g.179533783A>C , CM000663.1:g.179533783A>C | GRCh37 |
| NC_000001.9:g.177800406A>C | NCBI36 |
| NG_007535.1:g.16302T>G , LRG_887:g.16302T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367615.9:c.378+42T>G MANE Select | ENSP00000356587.4:n.378+42T>G | |
| ENST00000367615.8:c.378+42T>G | ENSP00000356587.4:n.378+42T>G | |
| ENST00000367616.4:c.378+42T>G | ENSP00000356588.4:n.378+42T>G | |
| NM_001297575.1:c.378+42T>G | NP_001284504.1:n.378+42T>G | |
| NM_014625.3:c.378+42T>G , LRG_887t1:c.378+42T>G | NP_055440.1:n.378+42T>G | |
| XM_005245483.2:c.275-4887T>G | XP_005245540.1:n.275-4887T>G | |
| XM_006711529.2:c.378+42T>G | XP_006711592.1:n.378+42T>G | |
| XM_005245483.3:c.275-4887T>G | XP_005245540.1:n.275-4887T>G | |
| XM_017002298.1:c.378+42T>G | XP_016857787.1:n.378+42T>G | |
| XM_017002299.1:c.378+42T>G | XP_016857788.1:n.378+42T>G | |
| NM_001297575.2:c.378+42T>G | NP_001284504.1:n.378+42T>G | |
| NM_014625.4:c.378+42T>G MANE Select | NP_055440.1:n.378+42T>G |