Linked Data
ClinVar Variation Id:
447478
dbSNP Id:
rs148507354
ExAC:
17:42428165 C / A
gnomAD v2:
17-42428165-C-A
gnomAD v3:
17-44350797-C-A
gnomAD v4:
17-44350797-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44350797C>A , CM000679.2:g.44350797C>A | GRCh38 |
| NC_000017.10:g.42428165C>A , CM000679.1:g.42428165C>A | GRCh37 |
| NC_000017.9:g.39783691C>A | NCBI36 |
| NG_007886.1:g.10675C>A , LRG_661:g.10675C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.705C>A MANE Select | ENSP00000053867.2:p.Pro235= | |
| ENST00000639447.1:c.705C>A | ENSP00000492014.1:p.Pro235= | |
| ENST00000053867.7:c.705C>A | ENSP00000053867.2:p.Pro235= | |
| ENST00000586443.1:c.146C>A | ||
| ENST00000586782.5:c.*115C>A | ENSP00000468318.1:n.*115C>A | |
| ENST00000588237.5:c.507C>A | ENSP00000466611.1:p.Pro169= | |
| ENST00000589265.5:c.462+457C>A | ENSP00000467616.1:n.462+457C>A | |
| ENST00000589923.1:n.26C>A | ||
| ENST00000590984.1:n.295C>A | ||
| NM_002087.3:c.705C>A | NP_002078.1:p.Pro235= | |
| XM_005257253.1:c.705C>A | XP_005257310.1:p.Pro235= | |
| XM_024450730.1:c.705C>A | XP_024306498.1:p.Pro235= | |
| NM_002087.4:c.705C>A MANE Select | NP_002078.1:p.Pro235= |