Linked Data
ClinVar Variation Id:
196412
ClinVar RCV Id:
RCV000188796
RCV000768074
RCV001085379
RCV000724756
RCV002294065
RCV002354455
RCV003917648
dbSNP Id:
rs143558324
ExAC:
4:77102148 G / C
gnomAD v2:
4-77102148-G-C
gnomAD v3:
4-76180995-G-C
gnomAD v4:
4-76180995-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76180995G>C , CM000666.2:g.76180995G>C | GRCh38 |
| NC_000004.11:g.77102148G>C , CM000666.1:g.77102148G>C | GRCh37 |
| NC_000004.10:g.77321172G>C | NCBI36 |
| NG_012054.1:g.37888C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.358C>G | ||
| ENST00000264896.8:c.382C>G MANE Select | ENSP00000264896.2:p.Pro128Ala | |
| ENST00000502908.2:n.635C>G | ||
| ENST00000638295.1:c.-93C>G | ENSP00000492288.1:n.-93C>G | |
| ENST00000638372.1:n.634C>G | ||
| ENST00000638603.1:c.382C>G | ENSP00000491728.1:p.Pro128Ala | |
| ENST00000638663.1:c.382C>G | ENSP00000491407.1:p.Pro128Ala | |
| ENST00000638680.1:n.715C>G | ||
| ENST00000639145.1:c.373C>G | ENSP00000492831.1:p.Pro125Ala | |
| ENST00000639300.1:c.382C>G | ENSP00000492840.1:p.Pro128Ala | |
| ENST00000639324.1:n.481C>G | ||
| ENST00000639715.1:c.347C>G | ||
| ENST00000639738.1:c.276-14694C>G | ENSP00000491792.1:n.276-14694C>G | |
| ENST00000640341.1:c.382C>G | ENSP00000492714.1:p.Pro128Ala | |
| ENST00000640634.1:c.359C>G | ||
| ENST00000640640.1:c.382C>G | ENSP00000492246.1:p.Pro128Ala | |
| ENST00000640916.1:n.310C>G | ||
| ENST00000640957.1:c.382C>G | ENSP00000492004.1:p.Pro128Ala | |
| ENST00000264896.6:c.382C>G | ENSP00000264896.2:p.Pro128Ala | |
| ENST00000452464.6:c.276-5085C>G | ENSP00000399154.2:n.276-5085C>G | |
| ENST00000502908.1:n.246C>G | ||
| NM_001204255.1:c.276-5085C>G | NP_001191184.1:n.276-5085C>G | |
| NM_005506.3:c.382C>G | NP_005497.1:p.Pro128Ala | |
| NM_005506.4:c.382C>G MANE Select | NP_005497.1:p.Pro128Ala | |
| NM_001204255.2:c.276-5085C>G | NP_001191184.1:n.276-5085C>G |