Linked Data
ClinVar Variation Id:
1751524
ClinVar RCV Id:
RCV002360072
dbSNP Id:
rs777004444
ExAC:
12:40734241 T / A
gnomAD v3:
12-40340439-T-A
gnomAD v4:
12-40340439-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40340439T>A , CM000674.2:g.40340439T>A | GRCh38 |
| NC_000012.11:g.40734241T>A , CM000674.1:g.40734241T>A | GRCh37 |
| NC_000012.10:g.39020508T>A | NCBI36 |
| NG_011709.1:g.120429T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.6094T>A MANE Select | ENSP00000298910.7:p.Ser2032Thr | |
| ENST00000679360.1:c.*5003T>A | ENSP00000505368.1:n.*5003T>A | |
| ENST00000679532.1:c.1868T>A | ||
| ENST00000680018.1:c.1539T>A | ENSP00000505347.1:n.1539T>A | |
| ENST00000680422.1:c.1739T>A | ||
| ENST00000680425.1:c.1261T>A | ENSP00000506459.1:n.1261T>A | |
| ENST00000680453.1:c.1551T>A | ||
| ENST00000680790.1:c.5839T>A | ENSP00000505335.1:p.Ser1947Thr | |
| ENST00000681136.1:n.2078T>A | ||
| ENST00000681696.1:c.1777T>A | ENSP00000505871.1:p.Ser593Thr | |
| ENST00000298910.11:c.6094T>A | ENSP00000298910.7:p.Ser2032Thr | |
| ENST00000430804.5:c.3390T>A | ||
| ENST00000479187.5:n.2775T>A | ||
| NM_198578.3:c.6094T>A | NP_940980.3:p.Ser2032Thr | |
| XM_005268629.2:c.6094T>A | XP_005268686.1:p.Ser2032Thr | |
| XM_011537877.1:c.6094T>A | XP_011536179.1:p.Ser2032Thr | |
| XM_011537878.1:c.6094T>A | XP_011536180.1:p.Ser2032Thr | |
| XM_011537879.1:c.4891T>A | XP_011536181.1:p.Ser1631Thr | |
| XM_005268629.4:c.6094T>A | XP_005268686.1:p.Ser2032Thr | |
| XM_011537877.3:c.6094T>A | XP_011536179.1:p.Ser2032Thr | |
| XM_017018787.1:c.3010T>A | XP_016874276.1:p.Ser1004Thr | |
| XM_017018788.2:c.2356T>A | XP_016874277.1:p.Ser786Thr | |
| XM_024448833.1:c.4891T>A | XP_024304601.1:p.Ser1631Thr | |
| NM_198578.4:c.6094T>A MANE Select | NP_940980.4:p.Ser2032Thr |