Linked Data
ClinVar Variation Id:
1251570
ClinVar RCV Id:
RCV001657507
dbSNP Id:
rs2273505
ExAC:
20:61990878 C / T
gnomAD v2:
20-61990878-C-T
gnomAD v3:
20-63359526-C-T
gnomAD v4:
20-63359526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63359526C>T , CM000682.2:g.63359526C>T | GRCh38 |
| NC_000020.10:g.61990878C>T , CM000682.1:g.61990878C>T | GRCh37 |
| NC_000020.9:g.61461322C>T | NCBI36 |
| NG_011931.1:g.6818G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370263.9:c.228+22G>A MANE Select | ENSP00000359285.4:n.228+22G>A | |
| ENST00000636481.1:n.36+22G>A | ||
| ENST00000636726.1:n.33+22G>A | ||
| ENST00000675470.1:c.228+22G>A | ENSP00000502096.1:n.228+22G>A | |
| ENST00000370263.8:c.228+22G>A | ENSP00000359285.4:n.228+22G>A | |
| ENST00000463705.5:n.1032-8499G>A | ||
| ENST00000467563.3:n.280+22G>A | ||
| ENST00000498043.6:c.152+22G>A | ||
| ENST00000615287.4:c.-86+22G>A | ENSP00000483388.1:n.-86+22G>A | |
| ENST00000626188.1:n.314G>A | ||
| ENST00000627000.1:c.228+22G>A | ENSP00000486914.1:n.228+22G>A | |
| ENST00000628665.1:n.253+22G>A | ||
| NM_000744.6:c.228+22G>A | NP_000735.1:n.228+22G>A | |
| NM_001256573.1:c.-319+22G>A | NP_001243502.1:n.-319+22G>A | |
| NR_046317.1:n.459+22G>A | ||
| XM_017027625.2:c.-319+22G>A | XP_016883114.1:n.-319+22G>A | |
| NM_001256573.2:c.-319+22G>A | NP_001243502.1:n.-319+22G>A | |
| NR_046317.2:n.412+22G>A | ||
| NM_000744.7:c.228+22G>A MANE Select | NP_000735.1:n.228+22G>A |