Linked Data
ClinVar Variation Id:
236943
dbSNP Id:
rs772531745
ExAC:
12:58145116 G / A
gnomAD v2:
12-58145116-G-A
gnomAD v3:
12-57751333-G-A
gnomAD v4:
12-57751333-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57751333G>A , CM000674.2:g.57751333G>A | GRCh38 |
| NC_000012.11:g.58145116G>A , CM000674.1:g.58145116G>A | GRCh37 |
| NC_000012.10:g.56431383G>A | NCBI36 |
| NG_007484.2:g.6049C>T , LRG_490:g.6049C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257904.11:c.228C>T MANE Select | ENSP00000257904.5:p.Asp76= | |
| ENST00000257904.10:c.228C>T | ENSP00000257904.5:p.Asp76= | |
| ENST00000312990.10:c.228C>T | ENSP00000316889.6:p.Asp76= | |
| ENST00000546489.5:c.6C>T | ENSP00000447779.1:p.Asp2= | |
| ENST00000547281.5:c.6C>T | ENSP00000447274.1:p.Asp2= | |
| ENST00000549606.5:c.-158+842C>T | ENSP00000447005.1:n.-158+842C>T | |
| ENST00000550419.5:c.228C>T | ENSP00000448098.1:p.Asp76= | |
| ENST00000551706.1:n.594C>T | ||
| ENST00000551800.5:c.6C>T | ENSP00000449391.1:p.Asp2= | |
| ENST00000551888.5:n.406C>T | ||
| ENST00000552254.5:c.228C>T | ENSP00000449179.1:p.Asp76= | |
| ENST00000552388.1:c.228C>T | ENSP00000448963.1:p.Asp76= | |
| ENST00000552862.1:c.228C>T | ENSP00000446763.1:p.Asp76= | |
| ENST00000553237.5:c.218+167C>T | ENSP00000448885.1:n.218+167C>T | |
| NM_000075.3:c.228C>T | NP_000066.1:p.Asp76= | |
| NM_000075.4:c.228C>T MANE Select | NP_000066.1:p.Asp76= |