Linked Data
ClinVar Variation Id:
351584
dbSNP Id:
rs113020040
gnomAD v2:
5-148363501-C-A
gnomAD v3:
5-148983938-C-A
gnomAD v4:
5-148983938-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148983938C>A , CM000667.2:g.148983938C>A | GRCh38 |
| NC_000005.9:g.148363501C>A , CM000667.1:g.148363501C>A | GRCh37 |
| NC_000005.8:g.148343694C>A | NCBI36 |
| NG_007947.2:g.84237G>T , LRG_269:g.84237G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*20773G>T MANE Select | ENSP00000423660.1:n.*20773G>T | |
| ENST00000504690.5:c.*12+19788G>T | ENSP00000425627.1:n.*12+19788G>T | |
| ENST00000510350.1:n.231+22943G>T | ||
| NM_024577.3:c.*20773G>T , LRG_269t1:c.*20773G>T | NP_078853.2:n.*20773G>T | |
| NM_024577.4:c.*20773G>T MANE Select | NP_078853.2:n.*20773G>T |