Linked Data
ClinVar Variation Id:
847949
ClinVar RCV Id:
RCV001051597
dbSNP Id:
rs148934350
gnomAD v2:
7-55259485-C-A
gnomAD v4:
7-55191792-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191792C>A , CM000669.2:g.55191792C>A | GRCh38 |
| NC_000007.13:g.55259485C>A , CM000669.1:g.55259485C>A | GRCh37 |
| NC_000007.12:g.55226979C>A | NCBI36 |
| NG_007726.3:g.177761C>A , LRG_304:g.177761C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2384C>A | ENSP00000413354.2:p.Pro795Gln | |
| ENST00000700145.1:c.892C>A | ||
| ENST00000275493.7:c.2543C>A MANE Select | ENSP00000275493.2:p.Pro848Gln | |
| ENST00000275493.6:c.2543C>A | ENSP00000275493.2:p.Pro848Gln | |
| ENST00000442591.5:c.*28+18864C>A | ENSP00000410031.1:n.*28+18864C>A | |
| ENST00000454757.6:c.2408C>A | ENSP00000395243.3:p.Pro803Gln | |
| ENST00000455089.5:c.2408C>A | ENSP00000415559.1:p.Pro803Gln | |
| NM_005228.3:c.2543C>A , LRG_304t1:c.2543C>A | NP_005219.2:p.Pro848Gln | |
| NM_001346897.1:c.2408C>A | NP_001333826.1:p.Pro803Gln | |
| NM_001346898.1:c.2543C>A | NP_001333827.1:p.Pro848Gln | |
| NM_001346899.1:c.2408C>A | NP_001333828.1:p.Pro803Gln | |
| NM_001346900.1:c.2384C>A | NP_001333829.1:p.Pro795Gln | |
| NM_001346941.1:c.1742C>A | NP_001333870.1:p.Pro581Gln | |
| NM_005228.4:c.2543C>A | NP_005219.2:p.Pro848Gln | |
| NM_005228.5:c.2543C>A MANE Select | NP_005219.2:p.Pro848Gln | |
| NM_001346897.2:c.2408C>A | NP_001333826.1:p.Pro803Gln | |
| NM_001346898.2:c.2543C>A | NP_001333827.1:p.Pro848Gln | |
| NM_001346900.2:c.2384C>A | NP_001333829.1:p.Pro795Gln | |
| NM_001346941.2:c.1742C>A | NP_001333870.1:p.Pro581Gln | |
| NM_001346899.2:c.2408C>A | NP_001333828.1:p.Pro803Gln |