Linked Data
ClinVar Variation Id:
304719
ClinVar RCV Id:
RCV000401771
dbSNP Id:
rs886048306
gnomAD v4:
11-45805124-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45805124A>G , CM000673.2:g.45805124A>G | GRCh38 |
| NC_000011.9:g.45826675A>G , CM000673.1:g.45826675A>G | GRCh37 |
| NC_000011.8:g.45783251A>G | NCBI36 |
| NG_009875.1:g.6053A>G , LRG_107:g.6053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.-31-686A>G | ENSP00000432145.2:n.-31-686A>G | |
| ENST00000314134.3:c.-678A>G | ENSP00000313318.3:n.-678A>G | |
| ENST00000442528.2:c.-32+607A>G | ENSP00000412408.2:n.-32+607A>G | |
| ENST00000526817.1:c.-31-686A>G | ENSP00000432145.1:n.-31-686A>G | |
| NM_001145265.1:c.-32+607A>G | NP_001138737.1:n.-32+607A>G | |
| NM_001145266.1:c.-31-686A>G | NP_001138738.1:n.-31-686A>G | |
| NM_018389.4:c.-678A>G , LRG_107t1:c.-678A>G | NP_060859.4:n.-678A>G | |
| XM_011520203.1:c.-678A>G | XP_011518505.1:n.-678A>G | |
| XM_011520203.3:c.-678A>G | XP_011518505.1:n.-678A>G | |
| NM_001145265.2:c.-32+607A>G | NP_001138737.1:n.-32+607A>G |