Linked Data
dbSNP Id:
rs1435043757
gnomAD v2:
10-13325781-A-C
gnomAD v3:
10-13283781-A-C
gnomAD v4:
10-13283781-A-C
COSMIC:
COSM3675685
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283781A>C , CM000672.2:g.13283781A>C | GRCh38 |
| NC_000010.10:g.13325781A>C , CM000672.1:g.13325781A>C | GRCh37 |
| NC_000010.9:g.13365787A>C | NCBI36 |
| NG_012862.1:g.21350T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.737T>G MANE Select | ENSP00000263038.4:p.Val246Gly | |
| ENST00000263038.8:c.737T>G | ENSP00000263038.4:p.Val246Gly | |
| ENST00000396913.6:c.437T>G | ENSP00000380121.2:p.Val146Gly | |
| ENST00000396920.7:c.686T>G | ENSP00000380126.3:p.Val229Gly | |
| ENST00000453759.6:c.437T>G | ENSP00000412525.2:p.Val146Gly | |
| NM_001037537.1:c.437T>G | NP_001032626.1:p.Val146Gly | |
| NM_006214.3:c.737T>G | NP_006205.1:p.Val246Gly | |
| XM_005252469.2:c.518T>G | XP_005252526.1:p.Val173Gly | |
| NM_001323080.1:c.437T>G | NP_001310009.1:p.Val146Gly | |
| NM_001323082.1:c.743T>G | NP_001310011.1:p.Val248Gly | |
| NM_001323083.1:c.473T>G | NP_001310012.1:p.Val158Gly | |
| NM_001323084.1:c.443T>G | NP_001310013.1:p.Val148Gly | |
| NM_006214.4:c.737T>G MANE Select | NP_006205.1:p.Val246Gly | |
| NM_001037537.2:c.437T>G | NP_001032626.1:p.Val146Gly | |
| NM_001323080.2:c.437T>G | NP_001310009.1:p.Val146Gly | |
| NM_001323082.2:c.743T>G | NP_001310011.1:p.Val248Gly | |
| NM_001323083.2:c.473T>G | NP_001310012.1:p.Val158Gly | |
| NM_001323084.2:c.443T>G | NP_001310013.1:p.Val148Gly |