Linked Data
ClinVar Variation Id:
2097579
ClinVar RCV Id:
RCV003018875
dbSNP Id:
rs1238436196
gnomAD v2:
3-43759294-G-T
gnomAD v4:
3-43717802-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43717802G>T , CM000665.2:g.43717802G>T | GRCh38 |
| NC_000003.11:g.43759294G>T , CM000665.1:g.43759294G>T | GRCh37 |
| NC_000003.10:g.43734298G>T | NCBI36 |
| NG_007090.3:g.31920G>T | |
| NG_007090.5:g.31933G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413300.2:c.304G>T | ||
| ENST00000454293.2:c.782G>T | ENSP00000412014.2:p.Gly261Val | |
| ENST00000458276.7:c.774-641G>T | ENSP00000390849.3:n.774-641G>T | |
| ENST00000463153.2:c.132G>T | ||
| ENST00000642351.1:c.782G>T | ENSP00000494478.1:p.Gly261Val | |
| ENST00000643140.1:c.*267G>T | ENSP00000495588.1:n.*267G>T | |
| ENST00000643477.1:c.*366G>T | ENSP00000496220.1:n.*366G>T | |
| ENST00000643500.1:c.*106G>T | ENSP00000494735.1:n.*106G>T | |
| ENST00000643520.1:n.1071G>T | ||
| ENST00000644371.2:c.905G>T MANE Select | ENSP00000495778.1:p.Gly302Val | |
| ENST00000646378.1:c.*955G>T | ENSP00000495826.1:n.*955G>T | |
| ENST00000646799.1:c.*248-641G>T | ENSP00000494829.1:n.*248-641G>T | |
| ENST00000649763.1:c.905G>T | ENSP00000497701.1:p.Gly302Val | |
| ENST00000413300.1:c.306G>T | ENSP00000392159.1:p.Trp102Cys | |
| ENST00000458276.6:c.905G>T | ENSP00000390849.2:p.Gly302Val | |
| ENST00000463153.1:n.135G>T | ||
| NM_016006.4:c.905G>T | NP_057090.2:p.Gly302Val | |
| XM_011533779.1:c.782G>T | XP_011532081.1:p.Gly261Val | |
| XM_011533780.1:c.774-641G>T | XP_011532082.1:n.774-641G>T | |
| XR_940447.1:n.850G>T | ||
| NM_001355186.1:c.905G>T | NP_001342115.1:p.Gly302Val | |
| NM_001365649.1:c.782G>T | NP_001352578.1:p.Gly261Val | |
| NM_001365650.1:c.774-641G>T | NP_001352579.1:n.774-641G>T | |
| NM_016006.5:c.905G>T | NP_057090.2:p.Gly302Val | |
| NR_158560.1:n.916G>T | ||
| NM_001355186.2:c.905G>T | NP_001342115.1:p.Gly302Val | |
| NM_016006.6:c.905G>T MANE Select | NP_057090.2:p.Gly302Val |