Linked Data
ClinVar Variation Id:
228289
dbSNP Id:
rs869025191
gnomAD v4:
1-155904739-C-G
COSMIC:
COSM397066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904739C>G , CM000663.2:g.155904739C>G | GRCh38 |
| NC_000001.10:g.155874530C>G , CM000663.1:g.155874530C>G | GRCh37 |
| NC_000001.9:g.154141154C>G | NCBI36 |
| NG_033885.1:g.11664G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461050.6:c.229G>C | ENSP00000476319.1:p.Ala77Pro | |
| ENST00000539040.6:c.121G>C | ENSP00000441950.1:p.Ala41Pro | |
| ENST00000704061.1:c.215-237G>C | ENSP00000515664.1:n.215-237G>C | |
| ENST00000368323.8:c.229G>C MANE Select | ENSP00000357306.3:p.Ala77Pro | |
| ENST00000650659.1:n.411G>C | ||
| ENST00000651833.1:c.229G>C | ENSP00000498732.1:p.Ala77Pro | |
| ENST00000651853.1:c.229G>C | ENSP00000498685.1:p.Ala77Pro | |
| ENST00000368322.7:c.280G>C | ENSP00000357305.3:p.Ala94Pro | |
| ENST00000368323.7:c.229G>C | ENSP00000357306.3:p.Ala77Pro | |
| ENST00000461050.5:c.229G>C | ENSP00000476319.1:p.Ala77Pro | |
| ENST00000539040.5:c.121G>C | ENSP00000441950.1:p.Ala41Pro | |
| ENST00000609492.1:c.229G>C | ENSP00000476612.1:p.Ala77Pro | |
| NM_001256820.1:c.121G>C | NP_001243749.1:p.Ala41Pro | |
| NM_001256821.1:c.280G>C | NP_001243750.1:p.Ala94Pro | |
| NM_006912.5:c.229G>C | NP_008843.1:p.Ala77Pro | |
| NM_001256820.2:c.121G>C | NP_001243749.1:p.Ala41Pro | |
| NM_001256821.2:c.280G>C | NP_001243750.1:p.Ala94Pro | |
| NM_006912.6:c.229G>C MANE Select | NP_008843.1:p.Ala77Pro |