Linked Data
ClinVar Variation Id:
523133
dbSNP Id:
rs1288116010
gnomAD v2:
1-220156143-G-C
gnomAD v3:
1-219982801-G-C
gnomAD v4:
1-219982801-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219982801G>C , CM000663.2:g.219982801G>C | GRCh38 |
| NC_000001.10:g.220156143G>C , CM000663.1:g.220156143G>C | GRCh37 |
| NC_000001.9:g.218222766G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366923.8:c.3344C>G MANE Select | ENSP00000355890.3:p.Pro1115Arg | |
| ENST00000366923.7:c.3344C>G | ENSP00000355890.3:p.Pro1115Arg | |
| ENST00000485821.1:n.307C>G | ||
| NM_004446.2:c.3344C>G | NP_004437.2:p.Pro1115Arg | |
| XM_017000614.2:c.1766C>G | XP_016856103.1:p.Pro589Arg | |
| NM_004446.3:c.3344C>G MANE Select | NP_004437.2:p.Pro1115Arg |