Linked Data
ClinVar Variation Id:
1792784
ClinVar RCV Id:
RCV002433211
dbSNP Id:
rs372747050
gnomAD v2:
15-73615896-C-A
gnomAD v3:
15-73323555-C-A
gnomAD v4:
15-73323555-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323555C>A , CM000677.2:g.73323555C>A | GRCh38 |
| NC_000015.9:g.73615896C>A , CM000677.1:g.73615896C>A | GRCh37 |
| NC_000015.8:g.71402949C>A | NCBI36 |
| NG_009063.1:g.50710G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2538G>T MANE Select | ENSP00000261917.3:p.Pro846= | |
| ENST00000261917.3:c.2538G>T | ENSP00000261917.3:p.Pro846= | |
| NM_005477.2:c.2538G>T | NP_005468.1:p.Pro846= | |
| XM_011521148.1:c.1320G>T | XP_011519450.1:p.Pro440= | |
| XM_011521148.2:c.1320G>T | XP_011519450.1:p.Pro440= | |
| NM_005477.3:c.2538G>T MANE Select | NP_005468.1:p.Pro846= |