Linked Data
ClinVar Variation Id:
39226
dbSNP Id:
rs111691891
ExAC:
12:40745381 C / T
gnomAD v2:
12-40745381-C-T
gnomAD v3:
12-40351579-C-T
gnomAD v4:
12-40351579-C-T
PubMed:
PMID:20301387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40351579C>T , CM000674.2:g.40351579C>T | GRCh38 |
| NC_000012.11:g.40745381C>T , CM000674.1:g.40745381C>T | GRCh37 |
| NC_000012.10:g.39031648C>T | NCBI36 |
| NG_011709.1:g.131569C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.6422C>T MANE Select | ENSP00000298910.7:p.Thr2141Met | |
| ENST00000636518.1:c.219C>T | ||
| ENST00000679360.1:c.*5331C>T | ENSP00000505368.1:n.*5331C>T | |
| ENST00000679532.1:c.2196C>T | ||
| ENST00000679683.1:c.212C>T | ||
| ENST00000680018.1:c.1867C>T | ENSP00000505347.1:n.1867C>T | |
| ENST00000680422.1:c.2067C>T | ||
| ENST00000680425.1:c.1589C>T | ENSP00000506459.1:n.1589C>T | |
| ENST00000680453.1:c.1879C>T | ||
| ENST00000680790.1:c.6167C>T | ENSP00000505335.1:p.Thr2056Met | |
| ENST00000681136.1:n.2406C>T | ||
| ENST00000681696.1:c.2105C>T | ENSP00000505871.1:p.Thr702Met | |
| ENST00000298910.11:c.6422C>T | ENSP00000298910.7:p.Thr2141Met | |
| ENST00000430804.5:c.3718C>T | ||
| ENST00000479187.5:n.3103C>T | ||
| NM_198578.3:c.6422C>T | NP_940980.3:p.Thr2141Met | |
| XM_005268629.2:c.6422C>T | XP_005268686.1:p.Thr2141Met | |
| XM_011537877.1:c.6422C>T | XP_011536179.1:p.Thr2141Met | |
| XM_011537878.1:c.6422C>T | XP_011536180.1:p.Thr2141Met | |
| XM_011537879.1:c.5219C>T | XP_011536181.1:p.Thr1740Met | |
| XM_005268629.4:c.6422C>T | XP_005268686.1:p.Thr2141Met | |
| XM_011537877.3:c.6422C>T | XP_011536179.1:p.Thr2141Met | |
| XM_017018787.1:c.3338C>T | XP_016874276.1:p.Thr1113Met | |
| XM_017018788.2:c.2684C>T | XP_016874277.1:p.Thr895Met | |
| XM_024448833.1:c.5219C>T | XP_024304601.1:p.Thr1740Met | |
| NM_198578.4:c.6422C>T MANE Select | NP_940980.4:p.Thr2141Met |