Linked Data
ClinVar Variation Id:
304727
ClinVar RCV Id:
RCV000367133
dbSNP Id:
rs886048309
gnomAD v2:
11-45826835-C-A
gnomAD v3:
11-45805284-C-A
gnomAD v4:
11-45805284-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45805284C>A , CM000673.2:g.45805284C>A | GRCh38 |
| NC_000011.9:g.45826835C>A , CM000673.1:g.45826835C>A | GRCh37 |
| NC_000011.8:g.45783411C>A | NCBI36 |
| NG_009875.1:g.6213C>A , LRG_107:g.6213C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.-31-526C>A | ENSP00000432145.2:n.-31-526C>A | |
| ENST00000314134.4:c.-518C>A MANE Select | ENSP00000313318.3:n.-518C>A | |
| ENST00000314134.3:c.-518C>A | ENSP00000313318.3:n.-518C>A | |
| ENST00000442528.2:c.-31-526C>A | ENSP00000412408.2:n.-31-526C>A | |
| ENST00000526817.1:c.-31-526C>A | ENSP00000432145.1:n.-31-526C>A | |
| ENST00000530471.1:c.-64C>A | ENSP00000432669.1:n.-64C>A | |
| NM_001145265.1:c.-31-526C>A | NP_001138737.1:n.-31-526C>A | |
| NM_001145266.1:c.-31-526C>A | NP_001138738.1:n.-31-526C>A | |
| NM_018389.4:c.-518C>A , LRG_107t1:c.-518C>A | NP_060859.4:n.-518C>A | |
| XM_011520203.1:c.-518C>A | XP_011518505.1:n.-518C>A | |
| XM_011520203.3:c.-518C>A | XP_011518505.1:n.-518C>A | |
| NM_001145265.2:c.-31-526C>A | NP_001138737.1:n.-31-526C>A | |
| NM_018389.5:c.-518C>A MANE Select | NP_060859.4:n.-518C>A |