Linked Data
ClinVar Variation Id:
904482
dbSNP Id:
rs114079860
gnomAD v2:
5-148364067-G-A
gnomAD v3:
5-148984504-G-A
gnomAD v4:
5-148984504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148984504G>A , CM000667.2:g.148984504G>A | GRCh38 |
| NC_000005.9:g.148364067G>A , CM000667.1:g.148364067G>A | GRCh37 |
| NC_000005.8:g.148344260G>A | NCBI36 |
| NG_007947.2:g.83671C>T , LRG_269:g.83671C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*20207C>T MANE Select | ENSP00000423660.1:n.*20207C>T | |
| ENST00000504690.5:c.*12+19222C>T | ENSP00000425627.1:n.*12+19222C>T | |
| ENST00000510350.1:n.231+22377C>T | ||
| NM_024577.3:c.*20207C>T , LRG_269t1:c.*20207C>T | NP_078853.2:n.*20207C>T | |
| NM_024577.4:c.*20207C>T MANE Select | NP_078853.2:n.*20207C>T |