Linked Data
ClinVar Variation Id:
1020544
ClinVar RCV Id:
RCV003652167
dbSNP Id:
rs1750576080
gnomAD v4:
5-112707554-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707554G>A , CM000667.2:g.112707554G>A | GRCh38 |
| NC_000005.9:g.112043251G>A , CM000667.1:g.112043251G>A | GRCh37 |
| NC_000005.8:g.112071150G>A | NCBI36 |
| NG_008481.4:g.20034G>A , LRG_130:g.20034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-164G>A | ENSP00000481752.1:n.-164G>A | |
| ENST00000507379.6:c.-164G>A | ENSP00000423224.2:n.-164G>A | |
| ENST00000509732.6:c.-114G>A | ENSP00000426541.2:n.-114G>A | |
| ENST00000505350.1:c.-164G>A | ENSP00000481752.1:n.-164G>A | |
| ENST00000507379.5:c.-164G>A | ENSP00000423224.1:n.-164G>A | |
| ENST00000509732.5:c.-114G>A | ENSP00000426541.1:n.-114G>A | |
| NM_001127511.2:c.-164G>A | NP_001120983.2:n.-164G>A | |
| NM_001354895.1:c.-347G>A | NP_001341824.1:n.-347G>A | |
| NM_001354897.1:c.-164G>A | NP_001341826.1:n.-164G>A | |
| NM_001354902.1:c.-164G>A | NP_001341831.1:n.-164G>A | |
| NM_001127511.3:c.-164G>A | NP_001120983.2:n.-164G>A | |
| NM_001354895.2:c.-347G>A | NP_001341824.1:n.-347G>A | |
| NM_001354897.2:c.-164G>A | NP_001341826.1:n.-164G>A | |
| NM_001354902.2:c.-164G>A | NP_001341831.1:n.-164G>A |