Linked Data
ClinVar Variation Id:
3060298
ClinVar RCV Id:
RCV003982327
dbSNP Id:
rs3093106
ExAC:
19:16008257 T / C
gnomAD v2:
19-16008257-T-C
gnomAD v3:
19-15897447-T-C
gnomAD v4:
19-15897447-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15897447T>C , CM000681.2:g.15897447T>C | GRCh38 |
| NC_000019.9:g.16008257T>C , CM000681.1:g.16008257T>C | GRCh37 |
| NC_000019.8:g.15869257T>C | NCBI36 |
| NG_007971.2:g.5628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.165A>G MANE Select | ENSP00000221700.3:p.Pro55= | |
| ENST00000011989.11:c.165A>G | ENSP00000011989.8:p.Pro55= | |
| ENST00000221700.10:c.165A>G | ENSP00000221700.3:p.Pro55= | |
| ENST00000392846.7:n.49+579A>G | ||
| ENST00000586927.2:c.165A>G | ENSP00000465514.1:p.Pro55= | |
| ENST00000587671.2:c.165A>G | ENSP00000467443.2:p.Pro55= | |
| ENST00000608168.1:n.218A>G | ||
| NM_001082.4:c.165A>G | NP_001073.3:p.Pro55= | |
| NM_001082.5:c.165A>G MANE Select | NP_001073.3:p.Pro55= |