Linked Data
ClinVar Variation Id:
1757225
ClinVar RCV Id:
RCV002367410
gnomAD v4:
12-40363483-C-T
MyVariant Identifiers:
chr12:g.40757285C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363483C>T , CM000674.2:g.40363483C>T | GRCh38 |
| NC_000012.11:g.40757285C>T , CM000674.1:g.40757285C>T | GRCh37 |
| NC_000012.10:g.39043552C>T | NCBI36 |
| NG_011709.1:g.143473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7110C>T MANE Select | ENSP00000298910.7:p.Ser2370= | |
| ENST00000636518.1:c.907C>T | ||
| ENST00000679360.1:c.*6019C>T | ENSP00000505368.1:n.*6019C>T | |
| ENST00000679532.1:c.2884C>T | ||
| ENST00000679683.1:c.900C>T | ||
| ENST00000680018.1:c.2555C>T | ENSP00000505347.1:n.2555C>T | |
| ENST00000680422.1:c.4197C>T | ||
| ENST00000680425.1:c.2277C>T | ENSP00000506459.1:n.2277C>T | |
| ENST00000680453.1:c.2567C>T | ||
| ENST00000680790.1:c.6855C>T | ENSP00000505335.1:p.Ser2285= | |
| ENST00000681136.1:n.3094C>T | ||
| ENST00000681696.1:c.2793C>T | ENSP00000505871.1:p.Ser931= | |
| ENST00000681773.1:n.317C>T | ||
| ENST00000298910.11:c.7110C>T | ENSP00000298910.7:p.Ser2370= | |
| ENST00000430804.5:c.4406C>T | ||
| ENST00000479187.5:n.3791C>T | ||
| NM_198578.3:c.7110C>T | NP_940980.3:p.Ser2370= | |
| XM_005268629.2:c.7110C>T | XP_005268686.1:p.Ser2370= | |
| XM_011537877.1:c.7110C>T | XP_011536179.1:p.Ser2370= | |
| XM_011537879.1:c.5907C>T | XP_011536181.1:p.Ser1969= | |
| XR_944868.1:n.485-8656G>A | ||
| XM_005268629.4:c.7110C>T | XP_005268686.1:p.Ser2370= | |
| XM_011537877.3:c.7110C>T | XP_011536179.1:p.Ser2370= | |
| XM_017018787.1:c.4026C>T | XP_016874276.1:p.Ser1342= | |
| XM_017018788.2:c.3372C>T | XP_016874277.1:p.Ser1124= | |
| XM_024448833.1:c.5907C>T | XP_024304601.1:p.Ser1969= | |
| XR_944868.2:n.485-8656G>A | ||
| NM_198578.4:c.7110C>T MANE Select | NP_940980.4:p.Ser2370= |