Linked Data
ClinVar Variation Id:
2969820
ClinVar RCV Id:
RCV003821954
dbSNP Id:
rs370144239
ExAC:
3:133485118 G / T
gnomAD v2:
3-133485118-G-T
gnomAD v3:
3-133766274-G-T
gnomAD v4:
3-133766274-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133766274G>T , CM000665.2:g.133766274G>T | GRCh38 |
| NC_000003.11:g.133485118G>T , CM000665.1:g.133485118G>T | GRCh37 |
| NC_000003.10:g.134967808G>T | NCBI36 |
| NG_013080.1:g.25142G>T | |
| NG_013080.2:g.109277G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1331-4G>T MANE Select | ENSP00000385834.3:n.1331-4G>T | |
| ENST00000402696.7:c.1331-4G>T | ENSP00000385834.3:n.1331-4G>T | |
| NM_001063.3:c.1331-4G>T | NP_001054.1:n.1331-4G>T | |
| XM_011513100.1:c.1331-4G>T | XP_011511402.1:n.1331-4G>T | |
| NM_001354703.1:c.1199-4G>T | NP_001341632.1:n.1199-4G>T | |
| NM_001354704.1:c.950-4G>T | NP_001341633.1:n.950-4G>T | |
| NM_001063.4:c.1331-4G>T MANE Select | NP_001054.2:n.1331-4G>T | |
| NM_001354703.2:c.1199-4G>T | NP_001341632.2:n.1199-4G>T | |
| NM_001354704.2:c.950-4G>T | NP_001341633.2:n.950-4G>T |