Linked Data
ClinVar Variation Id:
299980
ClinVar RCV Id:
RCV000259849
dbSNP Id:
rs886047021
gnomAD v4:
10-47350226-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350226T>A , CM000672.2:g.47350226T>A | GRCh38 |
| NC_000010.10:g.48389136A>T , CM000672.1:g.48389136A>T | GRCh37 |
| NC_000010.9:g.48009142A>T | NCBI36 |
| NG_029718.1:g.6856T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1742T>A MANE Select | ENSP00000463151.1:p.Leu581Gln | |
| ENST00000584701.1:c.1742T>A | ENSP00000463151.1:p.Leu581Gln | |
| NM_002900.2:c.1742T>A | NP_002891.1:p.Leu581Gln | |
| NM_002900.3:c.1742T>A MANE Select | NP_002891.1:p.Leu581Gln |