Linked Data
ClinVar Variation Id:
309984
ClinVar RCV Id:
RCV000336284
dbSNP Id:
rs886049718
gnomAD v3:
12-57752255-C-A
gnomAD v4:
12-57752255-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57752255C>A , CM000674.2:g.57752255C>A | GRCh38 |
| NC_000012.11:g.58146038C>A , CM000674.1:g.58146038C>A | GRCh37 |
| NC_000012.10:g.56432305C>A | NCBI36 |
| NG_007484.2:g.5127G>T , LRG_490:g.5127G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257904.11:c.-100G>T MANE Select | ENSP00000257904.5:n.-100G>T | |
| ENST00000257904.10:c.-100G>T | ENSP00000257904.5:n.-100G>T | |
| ENST00000312990.10:c.-100G>T | ENSP00000316889.6:n.-100G>T | |
| ENST00000546489.5:c.-85G>T | ENSP00000447779.1:n.-85G>T | |
| ENST00000547281.5:c.-245G>T | ENSP00000447274.1:n.-245G>T | |
| ENST00000549606.5:c.-238G>T | ENSP00000447005.1:n.-238G>T | |
| ENST00000550419.5:c.-100G>T | ENSP00000448098.1:n.-100G>T | |
| ENST00000551706.1:n.110G>T | ||
| ENST00000551800.5:c.-282G>T | ENSP00000449391.1:n.-282G>T | |
| ENST00000551888.5:n.79G>T | ||
| ENST00000552388.1:c.-116G>T | ENSP00000448963.1:n.-116G>T | |
| ENST00000552862.1:c.-19-519G>T | ENSP00000446763.1:n.-19-519G>T | |
| ENST00000553237.5:c.-100G>T | ENSP00000448885.1:n.-100G>T | |
| NM_000075.3:c.-100G>T | NP_000066.1:n.-100G>T | |
| NM_000075.4:c.-100G>T MANE Select | NP_000066.1:n.-100G>T |