Linked Data
ClinVar Variation Id:
393060
dbSNP Id:
rs1057524765
gnomAD v2:
20-61987449-G-C
gnomAD v4:
20-63356097-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63356097G>C , CM000682.2:g.63356097G>C | GRCh38 |
| NC_000020.10:g.61987449G>C , CM000682.1:g.61987449G>C | GRCh37 |
| NC_000020.9:g.61457893G>C | NCBI36 |
| NG_011931.1:g.10247C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.274-13C>G MANE Select | ENSP00000359285.4:n.274-13C>G | |
| ENST00000370263.8:c.274-13C>G | ENSP00000359285.4:n.274-13C>G | |
| ENST00000463705.5:n.1032-5070C>G | ||
| ENST00000467563.3:n.326-13C>G | ||
| ENST00000498043.6:c.198-13C>G | ||
| ENST00000615287.4:c.-40-13C>G | ENSP00000483388.1:n.-40-13C>G | |
| ENST00000627000.1:c.286C>G | ENSP00000486914.1:p.Pro96Ala | |
| ENST00000627869.1:n.42C>G | ||
| ENST00000628665.1:n.299-13C>G | ||
| NM_000744.6:c.274-13C>G | NP_000735.1:n.274-13C>G | |
| NM_001256573.1:c.-273-13C>G | NP_001243502.1:n.-273-13C>G | |
| NR_046317.1:n.517C>G | ||
| XM_011528524.1:c.-40-13C>G | XP_011526826.1:n.-40-13C>G | |
| XM_017027625.2:c.-273-13C>G | XP_016883114.1:n.-273-13C>G | |
| NM_001256573.2:c.-273-13C>G | NP_001243502.1:n.-273-13C>G | |
| NR_046317.2:n.470C>G | ||
| NM_000744.7:c.274-13C>G MANE Select | NP_000735.1:n.274-13C>G |