Linked Data
ClinVar Variation Id:
1757054
ClinVar RCV Id:
RCV002365145
dbSNP Id:
rs992448451
gnomAD v3:
12-40363456-T-A
gnomAD v4:
12-40363456-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363456T>A , CM000674.2:g.40363456T>A | GRCh38 |
| NC_000012.11:g.40757258T>A , CM000674.1:g.40757258T>A | GRCh37 |
| NC_000012.10:g.39043525T>A | NCBI36 |
| NG_011709.1:g.143446T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7083T>A MANE Select | ENSP00000298910.7:p.Thr2361= | |
| ENST00000636518.1:c.880T>A | ||
| ENST00000679360.1:c.*5992T>A | ENSP00000505368.1:n.*5992T>A | |
| ENST00000679532.1:c.2857T>A | ||
| ENST00000679683.1:c.873T>A | ||
| ENST00000680018.1:c.2528T>A | ENSP00000505347.1:n.2528T>A | |
| ENST00000680422.1:c.4170T>A | ||
| ENST00000680425.1:c.2250T>A | ENSP00000506459.1:n.2250T>A | |
| ENST00000680453.1:c.2540T>A | ||
| ENST00000680790.1:c.6828T>A | ENSP00000505335.1:p.Thr2276= | |
| ENST00000681136.1:n.3067T>A | ||
| ENST00000681696.1:c.2766T>A | ENSP00000505871.1:p.Thr922= | |
| ENST00000681773.1:n.290T>A | ||
| ENST00000298910.11:c.7083T>A | ENSP00000298910.7:p.Thr2361= | |
| ENST00000430804.5:c.4379T>A | ||
| ENST00000479187.5:n.3764T>A | ||
| NM_198578.3:c.7083T>A | NP_940980.3:p.Thr2361= | |
| XM_005268629.2:c.7083T>A | XP_005268686.1:p.Thr2361= | |
| XM_011537877.1:c.7083T>A | XP_011536179.1:p.Thr2361= | |
| XM_011537879.1:c.5880T>A | XP_011536181.1:p.Thr1960= | |
| XR_944868.1:n.485-8629A>T | ||
| XM_005268629.4:c.7083T>A | XP_005268686.1:p.Thr2361= | |
| XM_011537877.3:c.7083T>A | XP_011536179.1:p.Thr2361= | |
| XM_017018787.1:c.3999T>A | XP_016874276.1:p.Thr1333= | |
| XM_017018788.2:c.3345T>A | XP_016874277.1:p.Thr1115= | |
| XM_024448833.1:c.5880T>A | XP_024304601.1:p.Thr1960= | |
| XR_944868.2:n.485-8629A>T | ||
| NM_198578.4:c.7083T>A MANE Select | NP_940980.4:p.Thr2361= |