Linked Data
ClinVar Variation Id:
822322
dbSNP Id:
rs745914221
gnomAD v2:
11-67258305-G-T
gnomAD v3:
11-67490834-G-T
gnomAD v4:
11-67490834-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490834G>T , CM000673.2:g.67490834G>T | GRCh38 |
| NC_000011.9:g.67258305G>T , CM000673.1:g.67258305G>T | GRCh37 |
| NC_000011.8:g.67014881G>T | NCBI36 |
| NG_008969.1:g.12801G>T , LRG_460:g.12801G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.1141G>T | ||
| ENST00000528641.7:c.645G>T | ENSP00000434982.3:p.Val215= | |
| ENST00000529797.2:n.1676G>T | ||
| ENST00000682324.1:c.469-163G>T | ENSP00000508017.1:n.469-163G>T | |
| ENST00000682659.1:c.465G>T | ENSP00000507351.1:p.Val155= | |
| ENST00000682699.1:c.834G>T | ENSP00000507935.1:p.Val278= | |
| ENST00000683237.1:c.826G>T | ENSP00000507343.1:p.Val276Leu | |
| ENST00000683856.1:c.657G>T | ENSP00000507979.1:p.Val219= | |
| ENST00000684006.1:c.823G>T | ENSP00000507269.1:p.Val275Leu | |
| ENST00000684657.1:c.654G>T | ENSP00000507961.1:p.Val218= | |
| ENST00000279146.8:c.834G>T MANE Select | ENSP00000279146.3:p.Val278= | |
| ENST00000279146.7:c.834G>T | ENSP00000279146.3:p.Val278= | |
| ENST00000528641.6:c.645G>T | ENSP00000434982.2:p.Val215= | |
| NM_001302959.1:c.657G>T | NP_001289888.1:p.Val219= | |
| NM_001302960.1:c.826G>T | NP_001289889.1:p.Val276Leu | |
| NM_003977.3:c.834G>T | NP_003968.3:p.Val278= | |
| XM_024448761.1:c.834G>T | XP_024304529.1:p.Val278= | |
| NM_003977.4:c.834G>T MANE Select | NP_003968.3:p.Val278= | |
| NM_001302960.2:c.826G>T | NP_001289889.1:p.Val276Leu | |
| NM_001302959.2:c.657G>T | NP_001289888.1:p.Val219= |