Linked Data
ClinVar Variation Id:
2110736
ClinVar RCV Id:
RCV003032217
dbSNP Id:
rs781874034
gnomAD v2:
19-8650320-G-C
gnomAD v4:
19-8585436-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8585436G>C , CM000681.2:g.8585436G>C | GRCh38 |
| NC_000019.9:g.8650320G>C , CM000681.1:g.8650320G>C | GRCh37 |
| NC_000019.8:g.8556320G>C | NCBI36 |
| NG_011840.2:g.30267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.2865+20C>G MANE Select | ENSP00000471851.1:n.2865+20C>G | |
| ENST00000270328.8:c.2865+20C>G | ENSP00000270328.4:n.2865+20C>G | |
| ENST00000593913.5:c.*1742+20C>G | ENSP00000469901.1:n.*1742+20C>G | |
| ENST00000595838.5:c.1326+20C>G | ENSP00000470501.1:n.1326+20C>G | |
| ENST00000596851.5:c.*2020C>G | ENSP00000469559.1:n.*2020C>G | |
| ENST00000597188.5:c.2865+20C>G | ENSP00000471851.1:n.2865+20C>G | |
| NM_001282352.1:c.1326+20C>G | NP_001269281.1:n.1326+20C>G | |
| NM_030957.3:c.2865+20C>G | NP_112219.3:n.2865+20C>G | |
| XM_006722917.2:c.1781C>G | XP_006722980.1:p.Ser594Trp | |
| XM_011528331.1:c.2885C>G | XP_011526633.1:p.Ser962Trp | |
| XM_011528332.1:c.2885C>G | XP_011526634.1:p.Ser962Trp | |
| XM_011528333.1:c.2885C>G | XP_011526635.1:p.Ser962Trp | |
| XM_011528334.1:c.2865+20C>G | XP_011526636.1:n.2865+20C>G | |
| XM_011528335.1:c.1454C>G | XP_011526637.1:p.Ser485Trp | |
| XM_011528336.1:c.1448C>G | XP_011526638.1:p.Ser483Trp | |
| XM_006722917.3:c.1781C>G | XP_006722980.1:p.Ser594Trp | |
| XM_017027338.2:c.2865+20C>G | XP_016882827.1:n.2865+20C>G | |
| XM_017027339.1:c.1434+20C>G | XP_016882828.1:n.1434+20C>G | |
| XM_017027340.1:c.1428+20C>G | XP_016882829.1:n.1428+20C>G | |
| NM_030957.4:c.2865+20C>G MANE Select | NP_112219.3:n.2865+20C>G | |
| NM_001282352.2:c.1326+20C>G | NP_001269281.1:n.1326+20C>G |