Linked Data
ClinVar Variation Id:
1911181
ClinVar RCV Id:
RCV002578517
dbSNP Id:
rs775943260
ExAC:
3:43759319 C / T
gnomAD v2:
3-43759319-C-T
gnomAD v3:
3-43717827-C-T
gnomAD v4:
3-43717827-C-T
COSMIC:
COSM3594192
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43717827C>T , CM000665.2:g.43717827C>T | GRCh38 |
| NC_000003.11:g.43759319C>T , CM000665.1:g.43759319C>T | GRCh37 |
| NC_000003.10:g.43734323C>T | NCBI36 |
| NG_007090.3:g.31945C>T | |
| NG_007090.5:g.31958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413300.2:c.329C>T | ||
| ENST00000454293.2:c.807C>T | ENSP00000412014.2:p.Ser269= | |
| ENST00000458276.7:c.774-616C>T | ENSP00000390849.3:n.774-616C>T | |
| ENST00000463153.2:c.157C>T | ||
| ENST00000642351.1:c.807C>T | ENSP00000494478.1:p.Ser269= | |
| ENST00000643140.1:c.*292C>T | ENSP00000495588.1:n.*292C>T | |
| ENST00000643477.1:c.*391C>T | ENSP00000496220.1:n.*391C>T | |
| ENST00000643500.1:c.*131C>T | ENSP00000494735.1:n.*131C>T | |
| ENST00000643520.1:n.1096C>T | ||
| ENST00000644371.2:c.930C>T MANE Select | ENSP00000495778.1:p.Ser310= | |
| ENST00000646378.1:c.*980C>T | ENSP00000495826.1:n.*980C>T | |
| ENST00000646799.1:c.*248-616C>T | ENSP00000494829.1:n.*248-616C>T | |
| ENST00000649763.1:c.930C>T | ENSP00000497701.1:p.Ser310= | |
| ENST00000413300.1:c.331C>T | ENSP00000392159.1:p.Leu111Phe | |
| ENST00000458276.6:c.930C>T | ENSP00000390849.2:p.Ser310= | |
| ENST00000463153.1:n.160C>T | ||
| NM_016006.4:c.930C>T | NP_057090.2:p.Ser310= | |
| XM_011533779.1:c.807C>T | XP_011532081.1:p.Ser269= | |
| XM_011533780.1:c.774-616C>T | XP_011532082.1:n.774-616C>T | |
| XR_940447.1:n.875C>T | ||
| NM_001355186.1:c.930C>T | NP_001342115.1:p.Ser310= | |
| NM_001365649.1:c.807C>T | NP_001352578.1:p.Ser269= | |
| NM_001365650.1:c.774-616C>T | NP_001352579.1:n.774-616C>T | |
| NM_016006.5:c.930C>T | NP_057090.2:p.Ser310= | |
| NR_158560.1:n.941C>T | ||
| NM_001355186.2:c.930C>T | NP_001342115.1:p.Ser310= | |
| NM_016006.6:c.930C>T MANE Select | NP_057090.2:p.Ser310= |