Linked Data
ClinVar Variation Id:
307382
ClinVar RCV Id:
RCV000308571
dbSNP Id:
rs886049014
gnomAD v3:
12-114683383-G-A
gnomAD v4:
12-114683383-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114683383G>A , CM000674.2:g.114683383G>A | GRCh38 |
| NC_000012.11:g.115121188G>A , CM000674.1:g.115121188G>A | GRCh37 |
| NC_000012.10:g.113605571G>A | NCBI36 |
| NG_008315.1:g.5782C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349155.7:c.-183C>T (TBX3) MANE Select | ENSP00000257567.2:n.-183C>T | |
| ENST00000257566.7:c.-183C>T (TBX3) | ENSP00000257566.3:n.-183C>T | |
| ENST00000349155.6:c.-183C>T (TBX3) | ENSP00000257567.2:n.-183C>T | |
| ENST00000552054.1:n.52C>T (TBX3) | ||
| ENST00000613550.1:c.-183C>T (TBX3) | ENSP00000480048.1:n.-183C>T | |
| NM_005996.3:c.-183C>T (TBX3) | NP_005987.3:n.-183C>T | |
| NM_016569.3:c.-183C>T (TBX3) | NP_057653.3:n.-183C>T | |
| XR_002957433.1:n.114+749G>A (TBX3-AS1) | ||
| NM_005996.4:c.-183C>T (TBX3) MANE Select | NP_005987.3:n.-183C>T | |
| NM_016569.4:c.-183C>T (TBX3) | NP_057653.3:n.-183C>T |