Linked Data
ClinVar Variation Id:
2182326
ClinVar RCV Id:
RCV002610792
dbSNP Id:
rs1169782947
gnomAD v3:
15-73322936-G-A
gnomAD v4:
15-73322936-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322936G>A , CM000677.2:g.73322936G>A | GRCh38 |
| NC_000015.9:g.73615277G>A , CM000677.1:g.73615277G>A | GRCh37 |
| NC_000015.8:g.71402330G>A | NCBI36 |
| NG_009063.1:g.51329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3157C>T MANE Select | ENSP00000261917.3:p.Leu1053Phe | |
| ENST00000261917.3:c.3157C>T | ENSP00000261917.3:p.Leu1053Phe | |
| NM_005477.2:c.3157C>T | NP_005468.1:p.Leu1053Phe | |
| XM_011521148.1:c.1939C>T | XP_011519450.1:p.Leu647Phe | |
| XM_011521148.2:c.1939C>T | XP_011519450.1:p.Leu647Phe | |
| NM_005477.3:c.3157C>T MANE Select | NP_005468.1:p.Leu1053Phe |