Linked Data
dbSNP Id:
rs781535658
ExAC:
12:40757329 G / T
gnomAD v2:
12-40757329-G-T
gnomAD v3:
12-40363527-G-T
gnomAD v4:
12-40363527-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363527G>T , CM000674.2:g.40363527G>T | GRCh38 |
| NC_000012.11:g.40757329G>T , CM000674.1:g.40757329G>T | GRCh37 |
| NC_000012.10:g.39043596G>T | NCBI36 |
| NG_011709.1:g.143517G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.7154G>T MANE Select | ENSP00000298910.7:p.Gly2385Val | |
| ENST00000636518.1:c.951G>T | ||
| ENST00000679360.1:c.*6063G>T | ENSP00000505368.1:n.*6063G>T | |
| ENST00000679532.1:c.2928G>T | ||
| ENST00000679683.1:c.944G>T | ||
| ENST00000680018.1:c.2599G>T | ENSP00000505347.1:n.2599G>T | |
| ENST00000680422.1:c.4241G>T | ||
| ENST00000680425.1:c.2321G>T | ENSP00000506459.1:n.2321G>T | |
| ENST00000680453.1:c.2611G>T | ||
| ENST00000680790.1:c.6899G>T | ENSP00000505335.1:p.Gly2300Val | |
| ENST00000681136.1:n.3138G>T | ||
| ENST00000681696.1:c.2837G>T | ENSP00000505871.1:p.Gly946Val | |
| ENST00000681773.1:n.361G>T | ||
| ENST00000298910.11:c.7154G>T | ENSP00000298910.7:p.Gly2385Val | |
| ENST00000430804.5:c.4450G>T | ||
| ENST00000479187.5:n.3835G>T | ||
| NM_198578.3:c.7154G>T | NP_940980.3:p.Gly2385Val | |
| XM_005268629.2:c.7154G>T | XP_005268686.1:p.Gly2385Val | |
| XM_011537877.1:c.7154G>T | XP_011536179.1:p.Gly2385Val | |
| XM_011537879.1:c.5951G>T | XP_011536181.1:p.Gly1984Val | |
| XR_944868.1:n.485-8700C>A | ||
| XM_005268629.4:c.7154G>T | XP_005268686.1:p.Gly2385Val | |
| XM_011537877.3:c.7154G>T | XP_011536179.1:p.Gly2385Val | |
| XM_017018787.1:c.4070G>T | XP_016874276.1:p.Gly1357Val | |
| XM_017018788.2:c.3416G>T | XP_016874277.1:p.Gly1139Val | |
| XM_024448833.1:c.5951G>T | XP_024304601.1:p.Gly1984Val | |
| XR_944868.2:n.485-8700C>A | ||
| NM_198578.4:c.7154G>T MANE Select | NP_940980.4:p.Gly2385Val |