Linked Data
ClinVar Variation Id:
666723
dbSNP Id:
rs1313329708
gnomAD v2:
17-18049398-G-A
gnomAD v3:
17-18146084-G-A
gnomAD v4:
17-18146084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18146084G>A , CM000679.2:g.18146084G>A | GRCh38 |
| NC_000017.10:g.18049398G>A , CM000679.1:g.18049398G>A | GRCh37 |
| NC_000017.9:g.17990123G>A | NCBI36 |
| NG_011634.1:g.42379G>A | |
| NG_011634.2:g.42379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6486G>A MANE Select | ENSP00000495481.1:p.Pro2162= | |
| ENST00000205890.9:c.6486G>A | ENSP00000205890.5:p.Pro2162= | |
| ENST00000578999.1:n.71G>A | ||
| ENST00000615845.4:c.6486G>A | ENSP00000481642.1:p.Pro2162= | |
| NM_016239.3:c.6486G>A | NP_057323.3:p.Pro2162= | |
| XM_011523917.1:c.6426G>A | XP_011522219.1:p.Pro2142= | |
| XM_011523918.1:c.6342+84G>A | XP_011522220.1:n.6342+84G>A | |
| XM_011523921.1:c.6480G>A | XP_011522223.1:p.Pro2160= | |
| XR_934037.1:n.7085G>A | ||
| XR_934038.1:n.7085G>A | ||
| XM_011523918.2:c.6342+84G>A | XP_011522220.1:n.6342+84G>A | |
| XM_017024714.2:c.6426G>A | XP_016880203.1:p.Pro2142= | |
| XM_017024715.2:c.6489G>A | XP_016880204.1:p.Pro2163= | |
| XM_024450781.1:c.6213+1492G>A | XP_024306549.1:n.6213+1492G>A | |
| NM_016239.4:c.6486G>A MANE Select | NP_057323.3:p.Pro2162= |