Linked Data
ClinVar Variation Id:
2884995
ClinVar RCV Id:
RCV003717028
dbSNP Id:
rs147129794
ExAC:
3:43759268 C / T
gnomAD v2:
3-43759268-C-T
gnomAD v3:
3-43717776-C-T
gnomAD v4:
3-43717776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43717776C>T , CM000665.2:g.43717776C>T | GRCh38 |
| NC_000003.11:g.43759268C>T , CM000665.1:g.43759268C>T | GRCh37 |
| NC_000003.10:g.43734272C>T | NCBI36 |
| NG_007090.3:g.31894C>T | |
| NG_007090.5:g.31907C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413300.2:c.278C>T | ||
| ENST00000454293.2:c.756C>T | ENSP00000412014.2:p.Ile252= | |
| ENST00000458276.7:c.774-667C>T | ENSP00000390849.3:n.774-667C>T | |
| ENST00000463153.2:c.106C>T | ||
| ENST00000642351.1:c.756C>T | ENSP00000494478.1:p.Ile252= | |
| ENST00000643140.1:c.*241C>T | ENSP00000495588.1:n.*241C>T | |
| ENST00000643477.1:c.*340C>T | ENSP00000496220.1:n.*340C>T | |
| ENST00000643500.1:c.*80C>T | ENSP00000494735.1:n.*80C>T | |
| ENST00000643520.1:n.1045C>T | ||
| ENST00000644371.2:c.879C>T MANE Select | ENSP00000495778.1:p.Ile293= | |
| ENST00000646378.1:c.*929C>T | ENSP00000495826.1:n.*929C>T | |
| ENST00000646799.1:c.*248-667C>T | ENSP00000494829.1:n.*248-667C>T | |
| ENST00000649763.1:c.879C>T | ENSP00000497701.1:p.Ile293= | |
| ENST00000413300.1:c.280C>T | ENSP00000392159.1:p.Leu94Phe | |
| ENST00000458276.6:c.879C>T | ENSP00000390849.2:p.Ile293= | |
| ENST00000463153.1:n.109C>T | ||
| NM_016006.4:c.879C>T | NP_057090.2:p.Ile293= | |
| XM_011533779.1:c.756C>T | XP_011532081.1:p.Ile252= | |
| XM_011533780.1:c.774-667C>T | XP_011532082.1:n.774-667C>T | |
| XR_940447.1:n.824C>T | ||
| NM_001355186.1:c.879C>T | NP_001342115.1:p.Ile293= | |
| NM_001365649.1:c.756C>T | NP_001352578.1:p.Ile252= | |
| NM_001365650.1:c.774-667C>T | NP_001352579.1:n.774-667C>T | |
| NM_016006.5:c.879C>T | NP_057090.2:p.Ile293= | |
| NR_158560.1:n.890C>T | ||
| NM_001355186.2:c.879C>T | NP_001342115.1:p.Ile293= | |
| NM_016006.6:c.879C>T MANE Select | NP_057090.2:p.Ile293= |