Linked Data
dbSNP Id:
rs1192524761
gnomAD v2:
12-40757299-T-C
gnomAD v4:
12-40363497-T-C
COSMIC:
COSM693187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363497T>C , CM000674.2:g.40363497T>C | GRCh38 |
| NC_000012.11:g.40757299T>C , CM000674.1:g.40757299T>C | GRCh37 |
| NC_000012.10:g.39043566T>C | NCBI36 |
| NG_011709.1:g.143487T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7124T>C MANE Select | ENSP00000298910.7:p.Val2375Ala | |
| ENST00000636518.1:c.921T>C | ||
| ENST00000679360.1:c.*6033T>C | ENSP00000505368.1:n.*6033T>C | |
| ENST00000679532.1:c.2898T>C | ||
| ENST00000679683.1:c.914T>C | ||
| ENST00000680018.1:c.2569T>C | ENSP00000505347.1:n.2569T>C | |
| ENST00000680422.1:c.4211T>C | ||
| ENST00000680425.1:c.2291T>C | ENSP00000506459.1:n.2291T>C | |
| ENST00000680453.1:c.2581T>C | ||
| ENST00000680790.1:c.6869T>C | ENSP00000505335.1:p.Val2290Ala | |
| ENST00000681136.1:n.3108T>C | ||
| ENST00000681696.1:c.2807T>C | ENSP00000505871.1:p.Val936Ala | |
| ENST00000681773.1:n.331T>C | ||
| ENST00000298910.11:c.7124T>C | ENSP00000298910.7:p.Val2375Ala | |
| ENST00000430804.5:c.4420T>C | ||
| ENST00000479187.5:n.3805T>C | ||
| NM_198578.3:c.7124T>C | NP_940980.3:p.Val2375Ala | |
| XM_005268629.2:c.7124T>C | XP_005268686.1:p.Val2375Ala | |
| XM_011537877.1:c.7124T>C | XP_011536179.1:p.Val2375Ala | |
| XM_011537879.1:c.5921T>C | XP_011536181.1:p.Val1974Ala | |
| XR_944868.1:n.485-8670A>G | ||
| XM_005268629.4:c.7124T>C | XP_005268686.1:p.Val2375Ala | |
| XM_011537877.3:c.7124T>C | XP_011536179.1:p.Val2375Ala | |
| XM_017018787.1:c.4040T>C | XP_016874276.1:p.Val1347Ala | |
| XM_017018788.2:c.3386T>C | XP_016874277.1:p.Val1129Ala | |
| XM_024448833.1:c.5921T>C | XP_024304601.1:p.Val1974Ala | |
| XR_944868.2:n.485-8670A>G | ||
| NM_198578.4:c.7124T>C MANE Select | NP_940980.4:p.Val2375Ala |