Linked Data
ClinVar Variation Id:
416914
ClinVar RCV Id:
RCV002063686
dbSNP Id:
rs202203317
ExAC:
20:61978114 C / T
gnomAD v2:
20-61978114-C-T
gnomAD v3:
20-63346762-C-T
gnomAD v4:
20-63346762-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63346762C>T , CM000682.2:g.63346762C>T | GRCh38 |
| NC_000020.10:g.61978114C>T , CM000682.1:g.61978114C>T | GRCh37 |
| NC_000020.9:g.61448558C>T | NCBI36 |
| NG_011931.1:g.19582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1860G>A MANE Select | ENSP00000359285.4:p.Pro620= | |
| ENST00000370263.8:c.1860G>A | ENSP00000359285.4:p.Pro620= | |
| ENST00000463705.5:n.2508G>A | ||
| ENST00000467563.3:n.1930G>A | ||
| ENST00000498043.6:c.1884G>A | ||
| ENST00000615287.4:c.1647G>A | ENSP00000483388.1:p.Pro549= | |
| ENST00000627000.1:c.*1549G>A | ENSP00000486914.1:n.*1549G>A | |
| ENST00000631289.1:n.174G>A | ||
| NM_000744.6:c.1860G>A | NP_000735.1:p.Pro620= | |
| NM_001256573.1:c.1332G>A | NP_001243502.1:p.Pro444= | |
| NR_046317.1:n.2116G>A | ||
| XM_011528524.1:c.1647G>A | XP_011526826.1:p.Pro549= | |
| XM_017027625.2:c.1332G>A | XP_016883114.1:p.Pro444= | |
| XM_024451822.1:c.1332G>A | XP_024307590.1:p.Pro444= | |
| NM_001256573.2:c.1332G>A | NP_001243502.1:p.Pro444= | |
| NR_046317.2:n.2069G>A | ||
| NM_000744.7:c.1860G>A MANE Select | NP_000735.1:p.Pro620= |