Linked Data
ClinVar Variation Id:
1009465
ClinVar RCV Id:
RCV003770595
dbSNP Id:
rs1259973377
gnomAD v3:
5-112707580-C-G
gnomAD v4:
5-112707580-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707580C>G , CM000667.2:g.112707580C>G | GRCh38 |
| NC_000005.9:g.112043277C>G , CM000667.1:g.112043277C>G | GRCh37 |
| NC_000005.8:g.112071176C>G | NCBI36 |
| NG_008481.4:g.20060C>G , LRG_130:g.20060C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-138C>G | ENSP00000481752.1:n.-138C>G | |
| ENST00000507379.6:c.-138C>G | ENSP00000423224.2:n.-138C>G | |
| ENST00000509732.6:c.-88C>G | ENSP00000426541.2:n.-88C>G | |
| ENST00000505350.1:c.-138C>G | ENSP00000481752.1:n.-138C>G | |
| ENST00000507379.5:c.-138C>G | ENSP00000423224.1:n.-138C>G | |
| ENST00000509732.5:c.-88C>G | ENSP00000426541.1:n.-88C>G | |
| NM_001127511.2:c.-138C>G | NP_001120983.2:n.-138C>G | |
| NM_001354895.1:c.-321C>G | NP_001341824.1:n.-321C>G | |
| NM_001354897.1:c.-138C>G | NP_001341826.1:n.-138C>G | |
| NM_001354902.1:c.-138C>G | NP_001341831.1:n.-138C>G | |
| NM_001127511.3:c.-138C>G | NP_001120983.2:n.-138C>G | |
| NM_001354895.2:c.-321C>G | NP_001341824.1:n.-321C>G | |
| NM_001354897.2:c.-138C>G | NP_001341826.1:n.-138C>G | |
| NM_001354902.2:c.-138C>G | NP_001341831.1:n.-138C>G |