Linked Data
ClinVar Variation Id:
653633
ClinVar RCV Id:
RCV003653371
dbSNP Id:
rs1580996027
gnomAD v4:
5-112707553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707553G>A , CM000667.2:g.112707553G>A | GRCh38 |
| NC_000005.9:g.112043250G>A , CM000667.1:g.112043250G>A | GRCh37 |
| NC_000005.8:g.112071149G>A | NCBI36 |
| NG_008481.4:g.20033G>A , LRG_130:g.20033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-165G>A | ENSP00000481752.1:n.-165G>A | |
| ENST00000507379.6:c.-165G>A | ENSP00000423224.2:n.-165G>A | |
| ENST00000509732.6:c.-115G>A | ENSP00000426541.2:n.-115G>A | |
| ENST00000505350.1:c.-165G>A | ENSP00000481752.1:n.-165G>A | |
| ENST00000507379.5:c.-165G>A | ENSP00000423224.1:n.-165G>A | |
| ENST00000509732.5:c.-115G>A | ENSP00000426541.1:n.-115G>A | |
| NM_001127511.2:c.-165G>A | NP_001120983.2:n.-165G>A | |
| NM_001354895.1:c.-348G>A | NP_001341824.1:n.-348G>A | |
| NM_001354897.1:c.-165G>A | NP_001341826.1:n.-165G>A | |
| NM_001354902.1:c.-165G>A | NP_001341831.1:n.-165G>A | |
| NM_001127511.3:c.-165G>A | NP_001120983.2:n.-165G>A | |
| NM_001354895.2:c.-348G>A | NP_001341824.1:n.-348G>A | |
| NM_001354897.2:c.-165G>A | NP_001341826.1:n.-165G>A | |
| NM_001354902.2:c.-165G>A | NP_001341831.1:n.-165G>A |