Linked Data
ClinVar Variation Id:
307394
ClinVar RCV Id:
RCV000345328
dbSNP Id:
rs752801993
gnomAD v3:
12-114683641-G-C
gnomAD v4:
12-114683641-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114683641G>C , CM000674.2:g.114683641G>C | GRCh38 |
| NC_000012.11:g.115121446G>C , CM000674.1:g.115121446G>C | GRCh37 |
| NC_000012.10:g.113605829G>C | NCBI36 |
| NG_008315.1:g.5524C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349155.7:c.-441C>G (TBX3) MANE Select | ENSP00000257567.2:n.-441C>G | |
| ENST00000349155.6:c.-441C>G (TBX3) | ENSP00000257567.2:n.-441C>G | |
| NM_005996.3:c.-441C>G (TBX3) | NP_005987.3:n.-441C>G | |
| NM_016569.3:c.-441C>G (TBX3) | NP_057653.3:n.-441C>G | |
| XR_002957433.1:n.114+1007G>C (TBX3-AS1) | ||
| NM_005996.4:c.-441C>G (TBX3) MANE Select | NP_005987.3:n.-441C>G | |
| NM_016569.4:c.-441C>G (TBX3) | NP_057653.3:n.-441C>G |