Linked Data
ClinVar Variation Id:
1932307
ClinVar RCV Id:
RCV002605743
dbSNP Id:
rs769357613
ExAC:
3:189713067 C / T
gnomAD v2:
3-189713067-C-T
gnomAD v3:
3-189995278-C-T
gnomAD v4:
3-189995278-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189995278C>T , CM000665.2:g.189995278C>T | GRCh38 |
| NC_000003.11:g.189713067C>T , CM000665.1:g.189713067C>T | GRCh37 |
| NC_000003.10:g.191195761C>T | NCBI36 |
| NG_031929.1:g.132160G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319332.10:c.633+12G>A MANE Select | ENSP00000316881.5:n.633+12G>A | |
| ENST00000319332.9:c.633+12G>A | ENSP00000316881.5:n.633+12G>A | |
| ENST00000426003.1:c.90+12G>A | ENSP00000394326.1:n.90+12G>A | |
| ENST00000427335.6:c.90+12G>A | ENSP00000408947.2:n.90+12G>A | |
| ENST00000444866.5:c.90+12G>A | ENSP00000391374.1:n.90+12G>A | |
| NM_001134418.1:c.90+12G>A | NP_001127890.1:n.90+12G>A | |
| NM_018192.3:c.633+12G>A | NP_060662.2:n.633+12G>A | |
| XM_011512955.1:c.90+12G>A | XP_011511257.1:n.90+12G>A | |
| NM_018192.4:c.633+12G>A MANE Select | NP_060662.2:n.633+12G>A | |
| NM_001134418.2:c.90+12G>A | NP_001127890.1:n.90+12G>A |