Linked Data
ClinVar Variation Id:
640162
ClinVar RCV Id:
RCV000793129
dbSNP Id:
rs921862940
gnomAD v3:
3-33114457-C-A
gnomAD v4:
3-33114457-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114457C>A , CM000665.2:g.33114457C>A | GRCh38 |
| NC_000003.11:g.33155949C>A , CM000665.1:g.33155949C>A | GRCh37 |
| NC_000003.10:g.33130953C>A | NCBI36 |
| NG_008122.1:g.5500C>A , LRG_4:g.5500C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320954.11:c.380C>A MANE Select | ENSP00000323696.5:p.Pro127Gln | |
| ENST00000320954.10:c.380C>A | ENSP00000323696.5:p.Pro127Gln | |
| ENST00000449224.1:c.380C>A | ENSP00000409997.1:p.Pro127Gln | |
| NM_006371.4:c.380C>A , LRG_4t1:c.380C>A | NP_006362.1:p.Pro127Gln | |
| NM_006371.5:c.380C>A MANE Select | NP_006362.1:p.Pro127Gln | |
| NM_001393363.1:c.380C>A | NP_001380292.1:p.Pro127Gln | |
| NM_001393364.1:c.380C>A | NP_001380293.1:p.Pro127Gln | |
| NM_001393365.1:c.380C>A | NP_001380294.1:p.Pro127Gln |