Linked Data
ClinVar Variation Id:
338593
dbSNP Id:
rs774452914
ExAC:
20:45354485 G / C
gnomAD v2:
20-45354485-G-C
gnomAD v3:
20-46725846-G-C
gnomAD v4:
20-46725846-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725846G>C , CM000682.2:g.46725846G>C | GRCh38 |
| NC_000020.10:g.45354485G>C , CM000682.1:g.45354485G>C | GRCh37 |
| NC_000020.9:g.44787892G>C | NCBI36 |
| NG_016284.1:g.21207G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.810G>C MANE Select | ENSP00000352216.2:p.Val270= | |
| ENST00000359271.3:c.810G>C | ENSP00000352216.2:p.Val270= | |
| NM_030777.3:c.810G>C | NP_110404.1:p.Val270= | |
| XM_011529060.1:c.873G>C | XP_011527362.1:p.Val291= | |
| XM_011529061.1:c.819G>C | XP_011527363.1:p.Val273= | |
| XM_011529062.1:c.873G>C | XP_011527364.1:p.Val291= | |
| XM_011529063.1:c.873G>C | XP_011527365.1:p.Val291= | |
| XM_011529064.1:c.873G>C | XP_011527366.1:p.Val291= | |
| XM_011529065.1:c.873G>C | XP_011527367.1:p.Val291= | |
| XR_936641.1:n.1009G>C | ||
| XM_011529060.2:c.873G>C | XP_011527362.1:p.Val291= | |
| XM_011529061.2:c.819G>C | XP_011527363.1:p.Val273= | |
| XM_011529062.2:c.873G>C | XP_011527364.1:p.Val291= | |
| XM_011529063.2:c.873G>C | XP_011527365.1:p.Val291= | |
| XM_011529064.2:c.873G>C | XP_011527366.1:p.Val291= | |
| XM_011529065.2:c.873G>C | XP_011527367.1:p.Val291= | |
| XM_017028087.2:c.810G>C | XP_016883576.1:p.Val270= | |
| XR_936641.2:n.996G>C | ||
| NM_030777.4:c.810G>C MANE Select | NP_110404.1:p.Val270= |