Linked Data
ClinVar Variation Id:
907743
dbSNP Id:
rs528064272
gnomAD v2:
5-148362993-A-C
gnomAD v3:
5-148983430-A-C
gnomAD v4:
5-148983430-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148983430A>C , CM000667.2:g.148983430A>C | GRCh38 |
| NC_000005.9:g.148362993A>C , CM000667.1:g.148362993A>C | GRCh37 |
| NC_000005.8:g.148343186A>C | NCBI36 |
| NG_007947.2:g.84745T>G , LRG_269:g.84745T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*21281T>G MANE Select | ENSP00000423660.1:n.*21281T>G | |
| ENST00000504690.5:c.*12+20296T>G | ENSP00000425627.1:n.*12+20296T>G | |
| ENST00000510350.1:n.231+23451T>G | ||
| NM_024577.3:c.*21281T>G , LRG_269t1:c.*21281T>G | NP_078853.2:n.*21281T>G | |
| NM_024577.4:c.*21281T>G MANE Select | NP_078853.2:n.*21281T>G |