Linked Data
ClinVar Variation Id:
10489
ClinVar RCV Id:
RCV000011235
dbSNP Id:
rs104894856
PubMed:
PMID:1639384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149500977G>C , CM000685.2:g.149500977G>C | GRCh38 |
| NC_000023.10:g.148582508G>C , CM000685.1:g.148582508G>C | GRCh37 |
| NC_000023.9:g.148390413G>C | NCBI36 |
| NG_011900.3:g.9358C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.479C>G MANE Select | ENSP00000339801.6:p.Pro160Arg | |
| ENST00000651111.1:c.-155C>G | ENSP00000498395.1:n.-155C>G | |
| ENST00000340855.10:c.479C>G | ENSP00000339801.6:p.Pro160Arg | |
| ENST00000370441.8:c.479C>G | ENSP00000359470.4:p.Pro160Arg | |
| ENST00000422081.6:c.-155C>G | ENSP00000477056.1:n.-155C>G | |
| ENST00000441880.1:n.114-13879C>G | ||
| ENST00000464251.5:c.405C>G | ENSP00000428980.1:n.405C>G | |
| ENST00000466323.5:c.479C>G | ENSP00000418264.1:p.Pro160Arg | |
| ENST00000490775.5:n.138C>G | ||
| ENST00000523759.5:n.593C>G | ||
| NM_000202.6:c.479C>G | NP_000193.1:p.Pro160Arg | |
| NM_001166550.2:c.209C>G | NP_001160022.1:p.Pro70Arg | |
| NM_006123.4:c.479C>G | NP_006114.1:p.Pro160Arg | |
| NR_104128.1:n.696C>G | ||
| NM_000202.7:c.479C>G | NP_000193.1:p.Pro160Arg | |
| NM_001166550.3:c.209C>G | NP_001160022.1:p.Pro70Arg | |
| NM_000202.8:c.479C>G MANE Select | NP_000193.1:p.Pro160Arg | |
| NM_001166550.4:c.209C>G | NP_001160022.1:p.Pro70Arg | |
| NM_006123.5:c.479C>G | NP_006114.1:p.Pro160Arg | |
| NR_104128.2:n.648C>G |