Linked Data
ClinVar Variation Id:
3228062
ClinVar RCV Id:
RCV004517806
dbSNP Id:
rs775312063
ExAC:
20:45355534 T / C
gnomAD v2:
20-45355534-T-C
gnomAD v4:
20-46726895-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46726895T>C , CM000682.2:g.46726895T>C | GRCh38 |
| NC_000020.10:g.45355534T>C , CM000682.1:g.45355534T>C | GRCh37 |
| NC_000020.9:g.44788941T>C | NCBI36 |
| NG_016284.1:g.22256T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.1320T>C MANE Select | ENSP00000352216.2:p.Pro440= | |
| ENST00000359271.3:c.1320T>C | ENSP00000352216.2:p.Pro440= | |
| NM_030777.3:c.1320T>C | NP_110404.1:p.Pro440= | |
| XM_011529060.1:c.1383T>C | XP_011527362.1:p.Pro461= | |
| XM_011529061.1:c.1329T>C | XP_011527363.1:p.Pro443= | |
| XM_011529062.1:c.1432T>C | XP_011527364.1:p.Cys478Arg | |
| XM_011529063.1:c.1383T>C | XP_011527365.1:p.Pro461= | |
| XM_011529064.1:c.1432T>C | XP_011527366.1:p.Cys478Arg | |
| XM_011529065.1:c.1383T>C | XP_011527367.1:p.Pro461= | |
| XR_936641.1:n.1568T>C | ||
| XM_011529060.2:c.1383T>C | XP_011527362.1:p.Pro461= | |
| XM_011529061.2:c.1329T>C | XP_011527363.1:p.Pro443= | |
| XM_011529062.2:c.1432T>C | XP_011527364.1:p.Cys478Arg | |
| XM_011529063.2:c.1383T>C | XP_011527365.1:p.Pro461= | |
| XM_011529064.2:c.1432T>C | XP_011527366.1:p.Cys478Arg | |
| XM_011529065.2:c.1383T>C | XP_011527367.1:p.Pro461= | |
| XM_017028087.2:c.1320T>C | XP_016883576.1:p.Pro440= | |
| XR_936641.2:n.1555T>C | ||
| NM_030777.4:c.1320T>C MANE Select | NP_110404.1:p.Pro440= |