Linked Data
ClinVar Variation Id:
351719
dbSNP Id:
rs754724940
gnomAD v2:
5-148374171-T-A
gnomAD v3:
5-148994608-T-A
gnomAD v4:
5-148994608-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994608T>A , CM000667.2:g.148994608T>A | GRCh38 |
| NC_000005.9:g.148374171T>A , CM000667.1:g.148374171T>A | GRCh37 |
| NC_000005.8:g.148354364T>A | NCBI36 |
| NG_007947.2:g.73567A>T , LRG_269:g.73567A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515425.6:c.*10103A>T MANE Select | ENSP00000423660.1:n.*10103A>T | |
| ENST00000504690.5:c.*12+9118A>T | ENSP00000425627.1:n.*12+9118A>T | |
| ENST00000510350.1:n.231+12273A>T | ||
| NM_024577.3:c.*10103A>T , LRG_269t1:c.*10103A>T | NP_078853.2:n.*10103A>T | |
| NM_024577.4:c.*10103A>T MANE Select | NP_078853.2:n.*10103A>T |