Linked Data
ClinVar Variation Id:
206606
dbSNP Id:
rs796052906
gnomAD v2:
15-89868687-G-C
gnomAD v3:
15-89325456-G-C
gnomAD v4:
15-89325456-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325456G>C , CM000677.2:g.89325456G>C | GRCh38 |
| NC_000015.9:g.89868687G>C , CM000677.1:g.89868687G>C | GRCh37 |
| NC_000015.8:g.87669691G>C | NCBI36 |
| NG_008218.1:g.14340C>G | |
| NG_008218.2:g.14340C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1943C>G | ENSP00000516154.1:p.Pro648Arg | |
| ENST00000268124.11:c.1943C>G MANE Select | ENSP00000268124.5:p.Pro648Arg | |
| ENST00000530292.3:c.1544C>G | ENSP00000432885.2:p.Pro515Arg | |
| ENST00000635986.2:c.1943C>G | ENSP00000490653.2:p.Pro648Arg | |
| ENST00000636774.1:c.*510C>G | ENSP00000489799.1:n.*510C>G | |
| ENST00000637238.1:c.646+34C>G | ENSP00000490756.1:n.646+34C>G | |
| ENST00000637264.1:c.1015C>G | ||
| ENST00000666746.1:c.1520C>G | ||
| ENST00000670281.1:c.263C>G | ENSP00000499709.1:p.Pro88Arg | |
| ENST00000672071.1:n.2141C>G | ||
| ENST00000672923.2:n.2046C>G | ||
| ENST00000268124.9:c.1943C>G | ENSP00000268124.5:p.Pro648Arg | |
| ENST00000442287.6:c.1943C>G | ENSP00000399851.2:p.Pro648Arg | |
| ENST00000526314.2:c.325C>G | ||
| ENST00000526398.1:c.132C>G | ||
| ENST00000526573.1:n.29C>G | ||
| ENST00000532584.5:n.145C>G | ||
| ENST00000631044.2:c.*1326C>G | ENSP00000486730.1:n.*1326C>G | |
| NM_001126131.1:c.1943C>G | NP_001119603.1:p.Pro648Arg | |
| NM_002693.2:c.1943C>G | NP_002684.1:p.Pro648Arg | |
| NM_001126131.2:c.1943C>G | NP_001119603.1:p.Pro648Arg | |
| NM_002693.3:c.1943C>G MANE Select | NP_002684.1:p.Pro648Arg |