Linked Data
ClinVar Variation Id:
415522
dbSNP Id:
rs75218052
ExAC:
20:45354274 C / G
gnomAD v2:
20-45354274-C-G
gnomAD v3:
20-46725635-C-G
gnomAD v4:
20-46725635-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725635C>G , CM000682.2:g.46725635C>G | GRCh38 |
| NC_000020.10:g.45354274C>G , CM000682.1:g.45354274C>G | GRCh37 |
| NC_000020.9:g.44787681C>G | NCBI36 |
| NG_016284.1:g.20996C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.599C>G MANE Select | ENSP00000352216.2:p.Pro200Arg | |
| ENST00000359271.3:c.599C>G | ENSP00000352216.2:p.Pro200Arg | |
| NM_030777.3:c.599C>G | NP_110404.1:p.Pro200Arg | |
| XM_011529060.1:c.662C>G | XP_011527362.1:p.Pro221Arg | |
| XM_011529061.1:c.608C>G | XP_011527363.1:p.Pro203Arg | |
| XM_011529062.1:c.662C>G | XP_011527364.1:p.Pro221Arg | |
| XM_011529063.1:c.662C>G | XP_011527365.1:p.Pro221Arg | |
| XM_011529064.1:c.662C>G | XP_011527366.1:p.Pro221Arg | |
| XM_011529065.1:c.662C>G | XP_011527367.1:p.Pro221Arg | |
| XR_936641.1:n.798C>G | ||
| XM_011529060.2:c.662C>G | XP_011527362.1:p.Pro221Arg | |
| XM_011529061.2:c.608C>G | XP_011527363.1:p.Pro203Arg | |
| XM_011529062.2:c.662C>G | XP_011527364.1:p.Pro221Arg | |
| XM_011529063.2:c.662C>G | XP_011527365.1:p.Pro221Arg | |
| XM_011529064.2:c.662C>G | XP_011527366.1:p.Pro221Arg | |
| XM_011529065.2:c.662C>G | XP_011527367.1:p.Pro221Arg | |
| XM_017028087.2:c.599C>G | XP_016883576.1:p.Pro200Arg | |
| XR_936641.2:n.785C>G | ||
| NM_030777.4:c.599C>G MANE Select | NP_110404.1:p.Pro200Arg |