Linked Data
ClinVar Variation Id:
351609
dbSNP Id:
rs10040598
gnomAD v2:
5-148365720-C-A
gnomAD v3:
5-148986157-C-A
gnomAD v4:
5-148986157-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148986157C>A , CM000667.2:g.148986157C>A | GRCh38 |
| NC_000005.9:g.148365720C>A , CM000667.1:g.148365720C>A | GRCh37 |
| NC_000005.8:g.148345913C>A | NCBI36 |
| NG_007947.2:g.82018G>T , LRG_269:g.82018G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*18554G>T MANE Select | ENSP00000423660.1:n.*18554G>T | |
| ENST00000504690.5:c.*12+17569G>T | ENSP00000425627.1:n.*12+17569G>T | |
| ENST00000510350.1:n.231+20724G>T | ||
| NM_024577.3:c.*18554G>T , LRG_269t1:c.*18554G>T | NP_078853.2:n.*18554G>T | |
| NM_024577.4:c.*18554G>T MANE Select | NP_078853.2:n.*18554G>T |