Linked Data
ClinVar Variation Id:
309985
dbSNP Id:
rs759319348
gnomAD v2:
12-58146061-A-C
gnomAD v3:
12-57752278-A-C
gnomAD v4:
12-57752278-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57752278A>C , CM000674.2:g.57752278A>C | GRCh38 |
| NC_000012.11:g.58146061A>C , CM000674.1:g.58146061A>C | GRCh37 |
| NC_000012.10:g.56432328A>C | NCBI36 |
| NG_007484.2:g.5104T>G , LRG_490:g.5104T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257904.11:c.-123T>G MANE Select | ENSP00000257904.5:n.-123T>G | |
| ENST00000257904.10:c.-123T>G | ENSP00000257904.5:n.-123T>G | |
| ENST00000312990.10:c.-123T>G | ENSP00000316889.6:n.-123T>G | |
| ENST00000546489.5:c.-108T>G | ENSP00000447779.1:n.-108T>G | |
| ENST00000549606.5:c.-261T>G | ENSP00000447005.1:n.-261T>G | |
| ENST00000550419.5:c.-123T>G | ENSP00000448098.1:n.-123T>G | |
| ENST00000551706.1:n.87T>G | ||
| ENST00000551800.5:c.-305T>G | ENSP00000449391.1:n.-305T>G | |
| ENST00000551888.5:n.56T>G | ||
| ENST00000552388.1:c.-139T>G | ENSP00000448963.1:n.-139T>G | |
| ENST00000552862.1:c.-19-542T>G | ENSP00000446763.1:n.-19-542T>G | |
| ENST00000553237.5:c.-123T>G | ENSP00000448885.1:n.-123T>G | |
| NM_000075.3:c.-123T>G | NP_000066.1:n.-123T>G | |
| NM_000075.4:c.-123T>G MANE Select | NP_000066.1:n.-123T>G |