Linked Data
ClinVar Variation Id:
1041236
ClinVar RCV Id:
RCV002547439
dbSNP Id:
rs1750614449
gnomAD v4:
5-112707846-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707846C>T , CM000667.2:g.112707846C>T | GRCh38 |
| NC_000005.9:g.112043543C>T , CM000667.1:g.112043543C>T | GRCh37 |
| NC_000005.8:g.112071442C>T | NCBI36 |
| NG_008481.4:g.20326C>T , LRG_130:g.20326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.129C>T | ENSP00000481752.1:p.Gly43= | |
| ENST00000507379.6:c.129C>T | ENSP00000423224.2:p.Gly43= | |
| ENST00000509732.6:c.-19+197C>T | ENSP00000426541.2:n.-19+197C>T | |
| ENST00000505350.1:c.129C>T | ENSP00000481752.1:p.Gly43= | |
| ENST00000507379.5:c.129C>T | ENSP00000423224.1:p.Gly43= | |
| ENST00000509732.5:c.-19+197C>T | ENSP00000426541.1:n.-19+197C>T | |
| NM_001127511.2:c.129C>T | NP_001120983.2:p.Gly43= | |
| NM_001354895.1:c.-55C>T | NP_001341824.1:n.-55C>T | |
| NM_001354897.1:c.129C>T | NP_001341826.1:p.Gly43= | |
| NM_001354902.1:c.129C>T | NP_001341831.1:p.Gly43= | |
| NM_001127511.3:c.129C>T | NP_001120983.2:p.Gly43= | |
| NM_001354895.2:c.-55C>T | NP_001341824.1:n.-55C>T | |
| NM_001354897.2:c.129C>T | NP_001341826.1:p.Gly43= | |
| NM_001354902.2:c.129C>T | NP_001341831.1:p.Gly43= |