Linked Data
ClinVar Variation Id:
39201
dbSNP Id:
rs11564148
ExAC:
12:40713901 T / A
gnomAD v2:
12-40713901-T-A
gnomAD v3:
12-40320099-T-A
gnomAD v4:
12-40320099-T-A
PubMed:
PMID:20301387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40320099T>A , CM000674.2:g.40320099T>A | GRCh38 |
| NC_000012.11:g.40713901T>A , CM000674.1:g.40713901T>A | GRCh37 |
| NC_000012.10:g.39000168T>A | NCBI36 |
| NG_011709.1:g.100089T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.4939T>A MANE Select | ENSP00000298910.7:p.Ser1647Thr | |
| ENST00000679360.1:c.*3848T>A | ENSP00000505368.1:n.*3848T>A | |
| ENST00000679532.1:c.713T>A | ||
| ENST00000680018.1:c.384T>A | ENSP00000505347.1:n.384T>A | |
| ENST00000680422.1:c.584T>A | ||
| ENST00000680425.1:c.183-935T>A | ENSP00000506459.1:n.183-935T>A | |
| ENST00000680453.1:c.473-935T>A | ||
| ENST00000680790.1:c.4684T>A | ENSP00000505335.1:p.Ser1562Thr | |
| ENST00000681136.1:n.923T>A | ||
| ENST00000681696.1:c.622T>A | ENSP00000505871.1:p.Ser208Thr | |
| ENST00000298910.11:c.4939T>A | ENSP00000298910.7:p.Ser1647Thr | |
| ENST00000430804.5:c.2235T>A | ||
| ENST00000479187.5:n.1620T>A | ||
| NM_198578.3:c.4939T>A | NP_940980.3:p.Ser1647Thr | |
| XM_005268629.2:c.4939T>A | XP_005268686.1:p.Ser1647Thr | |
| XM_011537877.1:c.4939T>A | XP_011536179.1:p.Ser1647Thr | |
| XM_011537878.1:c.4939T>A | XP_011536180.1:p.Ser1647Thr | |
| XM_011537879.1:c.3736T>A | XP_011536181.1:p.Ser1246Thr | |
| XM_011537881.1:c.4828-935T>A | XP_011536183.1:n.4828-935T>A | |
| XM_005268629.4:c.4939T>A | XP_005268686.1:p.Ser1647Thr | |
| XM_011537877.3:c.4939T>A | XP_011536179.1:p.Ser1647Thr | |
| XM_011537881.3:c.4828-935T>A | XP_011536183.1:n.4828-935T>A | |
| XM_017018787.1:c.1855T>A | XP_016874276.1:p.Ser619Thr | |
| XM_017018788.2:c.1201T>A | XP_016874277.1:p.Ser401Thr | |
| XM_024448833.1:c.3736T>A | XP_024304601.1:p.Ser1246Thr | |
| XR_001748574.2:n.5307T>A | ||
| NM_198578.4:c.4939T>A MANE Select | NP_940980.4:p.Ser1647Thr |