Linked Data
ClinVar Variation Id:
31184
ClinVar RCV Id:
RCV000024183
dbSNP Id:
rs748510210
ExAC:
2:202492798 C / A
gnomAD v2:
2-202492798-C-A
gnomAD v4:
2-201628075-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201628075C>A , CM000664.2:g.201628075C>A | GRCh38 |
| NC_000002.11:g.202492798C>A , CM000664.1:g.202492798C>A | GRCh37 |
| NC_000002.10:g.202201043C>A | NCBI36 |
| NG_032049.1:g.20455G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.833+1G>T | ||
| ENST00000621467.5:c.817+1G>T | ENSP00000480508.2:n.817+1G>T | |
| ENST00000686475.1:n.883+1G>T | ||
| ENST00000409883.7:c.943+1G>T MANE Select | ENSP00000386264.2:n.943+1G>T | |
| ENST00000286196.9:c.*507+1G>T | ENSP00000286196.5:n.*507+1G>T | |
| ENST00000409444.6:c.919+1G>T | ENSP00000387203.2:n.919+1G>T | |
| ENST00000409883.6:c.943+1G>T | ENSP00000386264.2:n.943+1G>T | |
| ENST00000466641.5:n.641+1G>T | ||
| ENST00000466839.5:n.811+1G>T | ||
| ENST00000471318.5:n.265+1G>T | ||
| ENST00000621467.4:c.919+1G>T | ENSP00000480508.1:n.919+1G>T | |
| NM_001044385.2:c.943+1G>T | NP_001037850.1:n.943+1G>T | |
| NM_152388.3:c.919+1G>T | NP_689601.2:n.919+1G>T | |
| NM_001044385.3:c.943+1G>T MANE Select | NP_001037850.1:n.943+1G>T | |
| NM_152388.4:c.919+1G>T | NP_689601.2:n.919+1G>T |