Linked Data
ClinVar Variation Id:
1430963
ClinVar RCV Id:
RCV003653531
dbSNP Id:
rs1235543350
gnomAD v4:
5-112707591-G-A
COSMIC:
COSN9398829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707591G>A , CM000667.2:g.112707591G>A | GRCh38 |
| NC_000005.9:g.112043288G>A , CM000667.1:g.112043288G>A | GRCh37 |
| NC_000005.8:g.112071187G>A | NCBI36 |
| NG_008481.4:g.20071G>A , LRG_130:g.20071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-127G>A | ENSP00000481752.1:n.-127G>A | |
| ENST00000507379.6:c.-127G>A | ENSP00000423224.2:n.-127G>A | |
| ENST00000509732.6:c.-77G>A | ENSP00000426541.2:n.-77G>A | |
| ENST00000505350.1:c.-127G>A | ENSP00000481752.1:n.-127G>A | |
| ENST00000507379.5:c.-127G>A | ENSP00000423224.1:n.-127G>A | |
| ENST00000509732.5:c.-77G>A | ENSP00000426541.1:n.-77G>A | |
| NM_001127511.2:c.-127G>A | NP_001120983.2:n.-127G>A | |
| NM_001354895.1:c.-310G>A | NP_001341824.1:n.-310G>A | |
| NM_001354897.1:c.-127G>A | NP_001341826.1:n.-127G>A | |
| NM_001354902.1:c.-127G>A | NP_001341831.1:n.-127G>A | |
| NM_001127511.3:c.-127G>A | NP_001120983.2:n.-127G>A | |
| NM_001354895.2:c.-310G>A | NP_001341824.1:n.-310G>A | |
| NM_001354897.2:c.-127G>A | NP_001341826.1:n.-127G>A | |
| NM_001354902.2:c.-127G>A | NP_001341831.1:n.-127G>A |