Linked Data
ClinVar Variation Id:
907802
dbSNP Id:
rs761890589
gnomAD v2:
5-148364044-C-A
gnomAD v3:
5-148984481-C-A
gnomAD v4:
5-148984481-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148984481C>A , CM000667.2:g.148984481C>A | GRCh38 |
| NC_000005.9:g.148364044C>A , CM000667.1:g.148364044C>A | GRCh37 |
| NC_000005.8:g.148344237C>A | NCBI36 |
| NG_007947.2:g.83694G>T , LRG_269:g.83694G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*20230G>T MANE Select | ENSP00000423660.1:n.*20230G>T | |
| ENST00000504690.5:c.*12+19245G>T | ENSP00000425627.1:n.*12+19245G>T | |
| ENST00000510350.1:n.231+22400G>T | ||
| NM_024577.3:c.*20230G>T , LRG_269t1:c.*20230G>T | NP_078853.2:n.*20230G>T | |
| NM_024577.4:c.*20230G>T MANE Select | NP_078853.2:n.*20230G>T |