Linked Data
ClinVar Variation Id:
345260
ClinVar RCV Id:
RCV000298873
dbSNP Id:
rs17075919
gnomAD v2:
3-43762348-G-T
gnomAD v3:
3-43720856-G-T
gnomAD v4:
3-43720856-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43720856G>T , CM000665.2:g.43720856G>T | GRCh38 |
| NC_000003.11:g.43762348G>T , CM000665.1:g.43762348G>T | GRCh37 |
| NC_000003.10:g.43737352G>T | NCBI36 |
| NG_007090.3:g.34974G>T | |
| NG_007090.5:g.34987G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454293.2:c.*29+2295G>T | ENSP00000412014.2:n.*29+2295G>T | |
| ENST00000463153.2:c.306+2295G>T | ||
| ENST00000644371.2:c.*2324G>T MANE Select | ENSP00000495778.1:n.*2324G>T | |
| ENST00000649763.1:c.*29+2295G>T | ENSP00000497701.1:n.*29+2295G>T | |
| ENST00000463153.1:n.309+2295G>T | ||
| NM_016006.4:c.*2324G>T | NP_057090.2:n.*2324G>T | |
| XM_011533779.1:c.*2324G>T | XP_011532081.1:n.*2324G>T | |
| XM_011533780.1:c.*2350G>T | XP_011532082.1:n.*2350G>T | |
| XR_940447.1:n.3319G>T | ||
| NM_001355186.1:c.*29+2295G>T | NP_001342115.1:n.*29+2295G>T | |
| NM_001365649.1:c.*2324G>T | NP_001352578.1:n.*2324G>T | |
| NM_001365650.1:c.*2350G>T | NP_001352579.1:n.*2350G>T | |
| NM_016006.5:c.*2324G>T | NP_057090.2:n.*2324G>T | |
| NR_158560.1:n.3385G>T | ||
| NM_001355186.2:c.*29+2295G>T | NP_001342115.1:n.*29+2295G>T | |
| NM_016006.6:c.*2324G>T MANE Select | NP_057090.2:n.*2324G>T |