Linked Data
ClinVar Variation Id:
1927847
ClinVar RCV Id:
RCV002621905
dbSNP Id:
rs61762541
gnomAD v2:
1-230846586-C-T
gnomAD v3:
1-230710840-C-T
gnomAD v4:
1-230710840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230710840C>T , CM000663.2:g.230710840C>T | GRCh38 |
| NC_000001.10:g.230846586C>T , CM000663.1:g.230846586C>T | GRCh37 |
| NC_000001.9:g.228913209C>T | NCBI36 |
| NG_008836.1:g.8751G>A | |
| NG_008836.2:g.8751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.-17G>A MANE Select | ENSP00000355627.5:n.-17G>A | |
| ENST00000679684.1:c.-17G>A | ENSP00000505981.1:n.-17G>A | |
| ENST00000679738.1:c.-17G>A | ENSP00000505063.1:n.-17G>A | |
| ENST00000679802.1:c.-17G>A | ENSP00000505184.1:n.-17G>A | |
| ENST00000679854.1:n.495G>A | ||
| ENST00000679957.1:c.-17G>A | ENSP00000506646.1:n.-17G>A | |
| ENST00000680041.1:c.-17G>A | ENSP00000504866.1:n.-17G>A | |
| ENST00000680783.1:c.-17G>A | ENSP00000506329.1:n.-17G>A | |
| ENST00000681269.1:c.-17G>A | ENSP00000505985.1:n.-17G>A | |
| ENST00000681347.1:n.495G>A | ||
| ENST00000681514.1:c.-17G>A | ENSP00000505963.1:n.-17G>A | |
| ENST00000681772.1:c.-17G>A | ENSP00000505829.1:n.-17G>A | |
| ENST00000366667.4:c.11G>A | ENSP00000355627.4:p.Arg4Gln | |
| NM_000029.3:c.11G>A | NP_000020.1:p.Arg4Gln | |
| NM_000029.4:c.11G>A | NP_000020.1:p.Arg4Gln | |
| NM_001382817.3:c.-17G>A | NP_001369746.2:n.-17G>A | |
| NM_001384479.1:c.-17G>A MANE Select | NP_001371408.1:n.-17G>A |