Linked Data
ClinVar Variation Id:
133704
dbSNP Id:
rs587778103
gnomAD v4:
15-90811399-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811399G>C , CM000677.2:g.90811399G>C | GRCh38 |
| NC_000015.9:g.91354629G>C , CM000677.1:g.91354629G>C | GRCh37 |
| NC_000015.8:g.89155633G>C | NCBI36 |
| NG_007272.1:g.99028G>C , LRG_20:g.99028G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.4069G>C MANE Select | ENSP00000347232.3:p.Ala1357Pro | |
| ENST00000560559.2:n.2642G>C | ||
| ENST00000648453.1:c.4069G>C | ENSP00000497646.1:p.Ala1357Pro | |
| ENST00000680772.1:c.4069G>C | ENSP00000506117.1:p.Ala1357Pro | |
| ENST00000681142.1:c.4069G>C | ENSP00000506682.1:p.Ala1357Pro | |
| ENST00000355112.7:c.4069G>C | ENSP00000347232.3:p.Ala1357Pro | |
| ENST00000558825.5:n.1416G>C | ||
| ENST00000559724.5:c.*2993G>C | ENSP00000453359.1:n.*2993G>C | |
| ENST00000560509.5:c.3676G>C | ENSP00000454158.1:p.Ala1226Pro | |
| ENST00000560821.1:n.489G>C | ||
| NM_000057.3:c.4069G>C | NP_000048.1:p.Ala1357Pro | |
| NM_001287246.1:c.4069G>C | NP_001274175.1:p.Ala1357Pro | |
| NM_001287247.1:c.3676G>C | NP_001274176.1:p.Ala1226Pro | |
| NM_001287248.1:c.2944G>C | NP_001274177.1:p.Ala982Pro | |
| XM_006720632.2:c.2107G>C | XP_006720695.1:p.Ala703Pro | |
| XM_011521881.1:c.2755G>C | XP_011520183.1:p.Ala919Pro | |
| XM_011521881.2:c.2755G>C | XP_011520183.1:p.Ala919Pro | |
| NM_000057.4:c.4069G>C MANE Select | NP_000048.1:p.Ala1357Pro | |
| NM_001287246.2:c.4069G>C | NP_001274175.1:p.Ala1357Pro | |
| NM_001287247.2:c.3676G>C | NP_001274176.1:p.Ala1226Pro | |
| NM_001287248.2:c.2944G>C | NP_001274177.1:p.Ala982Pro |