Linked Data
ClinVar Variation Id:
1744221
ClinVar RCV Id:
RCV002342648
dbSNP Id:
rs1945353644
gnomAD v4:
12-40320095-C-T
MyVariant Identifiers:
chr12:g.40713897C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40320095C>T , CM000674.2:g.40320095C>T | GRCh38 |
| NC_000012.11:g.40713897C>T , CM000674.1:g.40713897C>T | GRCh37 |
| NC_000012.10:g.39000164C>T | NCBI36 |
| NG_011709.1:g.100085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.4935C>T MANE Select | ENSP00000298910.7:p.Tyr1645= | |
| ENST00000679360.1:c.*3844C>T | ENSP00000505368.1:n.*3844C>T | |
| ENST00000679532.1:c.709C>T | ||
| ENST00000680018.1:c.380C>T | ENSP00000505347.1:n.380C>T | |
| ENST00000680422.1:c.580C>T | ||
| ENST00000680425.1:c.183-939C>T | ENSP00000506459.1:n.183-939C>T | |
| ENST00000680453.1:c.473-939C>T | ||
| ENST00000680790.1:c.4680C>T | ENSP00000505335.1:p.Tyr1560= | |
| ENST00000681136.1:n.919C>T | ||
| ENST00000681696.1:c.618C>T | ENSP00000505871.1:p.Tyr206= | |
| ENST00000298910.11:c.4935C>T | ENSP00000298910.7:p.Tyr1645= | |
| ENST00000430804.5:c.2231C>T | ||
| ENST00000479187.5:n.1616C>T | ||
| NM_198578.3:c.4935C>T | NP_940980.3:p.Tyr1645= | |
| XM_005268629.2:c.4935C>T | XP_005268686.1:p.Tyr1645= | |
| XM_011537877.1:c.4935C>T | XP_011536179.1:p.Tyr1645= | |
| XM_011537878.1:c.4935C>T | XP_011536180.1:p.Tyr1645= | |
| XM_011537879.1:c.3732C>T | XP_011536181.1:p.Tyr1244= | |
| XM_011537881.1:c.4828-939C>T | XP_011536183.1:n.4828-939C>T | |
| XM_005268629.4:c.4935C>T | XP_005268686.1:p.Tyr1645= | |
| XM_011537877.3:c.4935C>T | XP_011536179.1:p.Tyr1645= | |
| XM_011537881.3:c.4828-939C>T | XP_011536183.1:n.4828-939C>T | |
| XM_017018787.1:c.1851C>T | XP_016874276.1:p.Tyr617= | |
| XM_017018788.2:c.1197C>T | XP_016874277.1:p.Tyr399= | |
| XM_024448833.1:c.3732C>T | XP_024304601.1:p.Tyr1244= | |
| XR_001748574.2:n.5303C>T | ||
| NM_198578.4:c.4935C>T MANE Select | NP_940980.4:p.Tyr1645= |