Linked Data
ClinVar Variation Id:
1430387
ClinVar RCV Id:
RCV001967494
dbSNP Id:
rs778688714
ExAC:
22:50297493 G / A
gnomAD v2:
22-50297493-G-A
gnomAD v3:
22-49903845-G-A
gnomAD v4:
22-49903845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49903845G>A , CM000684.2:g.49903845G>A | GRCh38 |
| NC_000022.10:g.50297493G>A , CM000684.1:g.50297493G>A | GRCh37 |
| NC_000022.9:g.48683497G>A | NCBI36 |
| NG_008927.1:g.19614C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.1460C>T MANE Select | ENSP00000333813.5:p.Pro487Leu | |
| ENST00000330817.10:c.1460C>T | ENSP00000333813.5:p.Pro487Leu | |
| ENST00000486602.1:c.479C>T | ||
| NM_024105.3:c.1460C>T | NP_077010.1:p.Pro487Leu | |
| XM_011530369.1:c.1238+334C>T | XP_011528671.1:n.1238+334C>T | |
| XM_011530370.1:c.1238+334C>T | XP_011528672.1:n.1238+334C>T | |
| XM_017028936.1:c.1238+334C>T | XP_016884425.1:n.1238+334C>T | |
| XM_017028937.1:c.1238+334C>T | XP_016884426.1:n.1238+334C>T | |
| NM_024105.4:c.1460C>T MANE Select | NP_077010.1:p.Pro487Leu |