Linked Data
ClinVar Variation Id:
2540709
ClinVar RCV Id:
RCV004313816
dbSNP Id:
rs1857185215
gnomAD v4:
11-48139564-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48139564C>G , CM000673.2:g.48139564C>G | GRCh38 |
| NC_000011.9:g.48161116C>G , CM000673.1:g.48161116C>G | GRCh37 |
| NC_000011.8:g.48117692C>G | NCBI36 |
| NG_012209.1:g.164007C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.2573C>G | ENSP00000514003.1:p.Pro858Arg | |
| ENST00000418331.7:c.2231C>G MANE Select | ENSP00000400010.2:p.Pro744Arg | |
| ENST00000418331.6:c.2231C>G | ENSP00000400010.2:p.Pro744Arg | |
| ENST00000613246.4:c.2231C>G | ENSP00000477933.1:p.Pro744Arg | |
| ENST00000615445.4:c.2231C>G | ENSP00000479342.1:p.Pro744Arg | |
| NM_002843.3:c.2231C>G | NP_002834.3:p.Pro744Arg | |
| XM_011520249.1:c.2264C>G | XP_011518551.1:p.Pro755Arg | |
| XR_930883.1:n.2581C>G | ||
| XM_017018083.1:c.2309C>G | XP_016873572.1:p.Pro770Arg | |
| XM_017018084.1:c.2252C>G | XP_016873573.1:p.Pro751Arg | |
| XM_017018085.1:c.2183C>G | XP_016873574.1:p.Pro728Arg | |
| XR_930883.2:n.2640C>G | ||
| NM_002843.4:c.2231C>G MANE Select | NP_002834.3:p.Pro744Arg |