Linked Data
ClinVar Variation Id:
419527
dbSNP Id:
rs1031329993
gnomAD v2:
12-58145487-C-T
gnomAD v3:
12-57751704-C-T
gnomAD v4:
12-57751704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57751704C>T , CM000674.2:g.57751704C>T | GRCh38 |
| NC_000012.11:g.58145487C>T , CM000674.1:g.58145487C>T | GRCh37 |
| NC_000012.10:g.56431754C>T | NCBI36 |
| NG_007484.2:g.5678G>A , LRG_490:g.5678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.14G>A MANE Select | ENSP00000257904.5:p.Arg5Gln | |
| ENST00000257904.10:c.14G>A | ENSP00000257904.5:p.Arg5Gln | |
| ENST00000312990.10:c.14G>A | ENSP00000316889.6:p.Arg5Gln | |
| ENST00000546489.5:c.-4-362G>A | ENSP00000447779.1:n.-4-362G>A | |
| ENST00000547281.5:c.-164-45G>A | ENSP00000447274.1:n.-164-45G>A | |
| ENST00000549606.5:c.-158+471G>A | ENSP00000447005.1:n.-158+471G>A | |
| ENST00000550419.5:c.14G>A | ENSP00000448098.1:p.Arg5Gln | |
| ENST00000551706.1:n.223G>A | ||
| ENST00000551800.5:c.-201-8G>A | ENSP00000449391.1:n.-201-8G>A | |
| ENST00000551888.5:n.192G>A | ||
| ENST00000552254.5:c.14G>A | ENSP00000449179.1:p.Arg5Gln | |
| ENST00000552388.1:c.14G>A | ENSP00000448963.1:p.Arg5Gln | |
| ENST00000552862.1:c.14G>A | ENSP00000446763.1:p.Arg5Gln | |
| ENST00000553237.5:c.14G>A | ENSP00000448885.1:p.Arg5Gln | |
| NM_000075.3:c.14G>A | NP_000066.1:p.Arg5Gln | |
| NM_000075.4:c.14G>A MANE Select | NP_000066.1:p.Arg5Gln |