Linked Data
ClinVar Variation Id:
558904
ClinVar RCV Id:
RCV000675634
dbSNP Id:
rs71581782
ExAC:
11:64520967 C / T
gnomAD v2:
11-64520967-C-T
gnomAD v3:
11-64753495-C-T
gnomAD v4:
11-64753495-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753495C>T , CM000673.2:g.64753495C>T | GRCh38 |
| NC_000011.9:g.64520967C>T , CM000673.1:g.64520967C>T | GRCh37 |
| NC_000011.8:g.64277543C>T | NCBI36 |
| NG_013018.1:g.12221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1403+24G>A MANE Select | ENSP00000164139.3:n.1403+24G>A | |
| ENST00000164139.3:c.1403+24G>A | ENSP00000164139.3:n.1403+24G>A | |
| ENST00000377432.7:c.1139+24G>A | ENSP00000366650.3:n.1139+24G>A | |
| NM_001164716.1:c.1139+24G>A | NP_001158188.1:n.1139+24G>A | |
| NM_005609.2:c.1403+24G>A | NP_005600.1:n.1403+24G>A | |
| NM_005609.3:c.1403+24G>A | NP_005600.1:n.1403+24G>A | |
| NM_005609.4:c.1403+24G>A MANE Select | NP_005600.1:n.1403+24G>A |