Linked Data
ClinVar Variation Id:
1496219
ClinVar RCV Id:
RCV002028459
dbSNP Id:
rs1024943702
gnomAD v3:
2-219157516-G-C
gnomAD v4:
2-219157516-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219157516G>C , CM000664.2:g.219157516G>C | GRCh38 |
| NC_000002.11:g.220022238G>C , CM000664.1:g.220022238G>C | GRCh37 |
| NC_000002.10:g.219730482G>C | NCBI36 |
| NG_007880.1:g.8350C>G , LRG_90:g.8350C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426304.6:c.346C>G | ENSP00000394896.2:p.Pro116Ala | |
| ENST00000457600.3:c.346C>G | ENSP00000407201.2:p.Pro116Ala | |
| ENST00000698174.1:c.346C>G | ENSP00000513594.1:p.Pro116Ala | |
| ENST00000698175.1:c.*93C>G | ENSP00000513595.1:n.*93C>G | |
| ENST00000698176.1:n.418C>G | ||
| ENST00000698202.1:c.346C>G | ENSP00000513605.1:p.Pro116Ala | |
| ENST00000698203.1:c.346C>G | ENSP00000513606.1:p.Pro116Ala | |
| ENST00000356853.10:c.346C>G MANE Select | ENSP00000349313.5:p.Pro116Ala | |
| ENST00000318673.6:c.*1468C>G | ENSP00000320919.3:n.*1468C>G | |
| ENST00000356853.9:c.346C>G | ENSP00000349313.5:p.Pro116Ala | |
| ENST00000409720.5:c.346C>G | ENSP00000387290.1:p.Pro116Ala | |
| ENST00000418099.5:c.346C>G | ENSP00000408966.1:p.Pro116Ala | |
| ENST00000426304.5:c.106C>G | ENSP00000394896.1:p.Pro36Ala | |
| ENST00000450447.1:c.*33C>G | ENSP00000408421.1:n.*33C>G | |
| ENST00000457600.2:c.346C>G | ENSP00000407201.1:p.Pro116Ala | |
| ENST00000498327.5:n.2534C>G | ||
| NM_024782.2:c.346C>G , LRG_90t1:c.346C>G | NP_079058.1:p.Pro116Ala | |
| NM_001377498.1:c.346C>G | NP_001364427.1:p.Pro116Ala | |
| NM_001377499.1:c.346C>G | NP_001364428.1:p.Pro116Ala | |
| NM_024782.3:c.346C>G MANE Select | NP_079058.1:p.Pro116Ala | |
| NR_165304.1:n.442C>G |