Linked Data
ClinVar Variation Id:
351721
dbSNP Id:
rs570266229
gnomAD v2:
5-148374175-T-A
gnomAD v3:
5-148994612-T-A
gnomAD v4:
5-148994612-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994612T>A , CM000667.2:g.148994612T>A | GRCh38 |
| NC_000005.9:g.148374175T>A , CM000667.1:g.148374175T>A | GRCh37 |
| NC_000005.8:g.148354368T>A | NCBI36 |
| NG_007947.2:g.73563A>T , LRG_269:g.73563A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515425.6:c.*10099A>T MANE Select | ENSP00000423660.1:n.*10099A>T | |
| ENST00000504690.5:c.*12+9114A>T | ENSP00000425627.1:n.*12+9114A>T | |
| ENST00000510350.1:n.231+12269A>T | ||
| NM_024577.3:c.*10099A>T , LRG_269t1:c.*10099A>T | NP_078853.2:n.*10099A>T | |
| NM_024577.4:c.*10099A>T MANE Select | NP_078853.2:n.*10099A>T |