Linked Data
ClinVar Variation Id:
1993721
ClinVar RCV Id:
RCV002806314
dbSNP Id:
rs1555735688
gnomAD v2:
19-8645894-G-C
gnomAD v4:
19-8581010-G-C
MyVariant Identifiers:
chr19:g.8645894G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8581010G>C , CM000681.2:g.8581010G>C | GRCh38 |
| NC_000019.9:g.8645894G>C , CM000681.1:g.8645894G>C | GRCh37 |
| NC_000019.8:g.8551894G>C | NCBI36 |
| NG_011840.2:g.34693C>G | |
| NG_052844.1:g.1438C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3203-8C>G MANE Select | ENSP00000471851.1:n.3203-8C>G | |
| ENST00000270328.8:c.3203-8C>G | ENSP00000270328.4:n.3203-8C>G | |
| ENST00000593913.5:c.*2080-8C>G | ENSP00000469901.1:n.*2080-8C>G | |
| ENST00000595838.5:c.1664-8C>G | ENSP00000470501.1:n.1664-8C>G | |
| ENST00000597188.5:c.3203-8C>G | ENSP00000471851.1:n.3203-8C>G | |
| NM_001282352.1:c.1664-8C>G | NP_001269281.1:n.1664-8C>G | |
| NM_030957.3:c.3203-8C>G | NP_112219.3:n.3203-8C>G | |
| XM_006722917.2:c.2246-8C>G | XP_006722980.1:n.2246-8C>G | |
| XM_011528331.1:c.3350-8C>G | XP_011526633.1:n.3350-8C>G | |
| XM_011528332.1:c.3350-8C>G | XP_011526634.1:n.3350-8C>G | |
| XM_011528333.1:c.3350-8C>G | XP_011526635.1:n.3350-8C>G | |
| XM_011528334.1:c.3026-8C>G | XP_011526636.1:n.3026-8C>G | |
| XM_011528335.1:c.1919-8C>G | XP_011526637.1:n.1919-8C>G | |
| XM_011528336.1:c.1913-8C>G | XP_011526638.1:n.1913-8C>G | |
| XM_006722917.3:c.2246-8C>G | XP_006722980.1:n.2246-8C>G | |
| XM_017027338.2:c.3203-8C>G | XP_016882827.1:n.3203-8C>G | |
| XM_017027339.1:c.1772-8C>G | XP_016882828.1:n.1772-8C>G | |
| XM_017027340.1:c.1766-8C>G | XP_016882829.1:n.1766-8C>G | |
| NM_030957.4:c.3203-8C>G MANE Select | NP_112219.3:n.3203-8C>G | |
| NM_001282352.2:c.1664-8C>G | NP_001269281.1:n.1664-8C>G |