Linked Data
ClinVar Variation Id:
2489896
ClinVar RCV Id:
RCV003205999
gnomAD v4:
12-40263898-C-T
MyVariant Identifiers:
chr12:g.40657700C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40263898C>T , CM000674.2:g.40263898C>T | GRCh38 |
| NC_000012.11:g.40657700C>T , CM000674.1:g.40657700C>T | GRCh37 |
| NC_000012.10:g.38943967C>T | NCBI36 |
| NG_011709.1:g.43888C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.1653C>T MANE Select | ENSP00000298910.7:p.Asn551= | |
| ENST00000679360.1:c.*562C>T | ENSP00000505368.1:n.*562C>T | |
| ENST00000680790.1:c.1398C>T | ENSP00000505335.1:p.Asn466= | |
| ENST00000298910.11:c.1653C>T | ENSP00000298910.7:p.Asn551= | |
| ENST00000343742.6:c.1653C>T | ENSP00000341930.2:p.Asn551= | |
| ENST00000416796.5:c.897C>T | ENSP00000398726.1:p.Asn299= | |
| NM_198578.3:c.1653C>T | NP_940980.3:p.Asn551= | |
| XM_005268629.2:c.1653C>T | XP_005268686.1:p.Asn551= | |
| XM_011537877.1:c.1653C>T | XP_011536179.1:p.Asn551= | |
| XM_011537878.1:c.1653C>T | XP_011536180.1:p.Asn551= | |
| XM_011537879.1:c.450C>T | XP_011536181.1:p.Asn150= | |
| XM_011537880.1:c.1653C>T | XP_011536182.1:p.Asn551= | |
| XM_011537881.1:c.1653C>T | XP_011536183.1:p.Asn551= | |
| XM_011537882.1:c.1653C>T | XP_011536184.1:p.Asn551= | |
| XM_005268629.4:c.1653C>T | XP_005268686.1:p.Asn551= | |
| XM_011537877.3:c.1653C>T | XP_011536179.1:p.Asn551= | |
| XM_011537881.3:c.1653C>T | XP_011536183.1:p.Asn551= | |
| XM_011537882.3:c.1653C>T | XP_011536184.1:p.Asn551= | |
| XM_017018786.2:c.1653C>T | XP_016874275.1:p.Asn551= | |
| XM_017018789.2:c.1653C>T | XP_016874278.1:p.Asn551= | |
| XM_024448833.1:c.450C>T | XP_024304601.1:p.Asn150= | |
| XR_001748574.2:n.1895C>T | ||
| NM_198578.4:c.1653C>T MANE Select | NP_940980.4:p.Asn551= |