Linked Data
dbSNP Id:
rs749894141
ExAC:
12:115121040 A / G
gnomAD v2:
12-115121040-A-G
gnomAD v4:
12-114683235-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114683235A>G , CM000674.2:g.114683235A>G | GRCh38 |
| NC_000012.11:g.115121040A>G , CM000674.1:g.115121040A>G | GRCh37 |
| NC_000012.10:g.113605423A>G | NCBI36 |
| NG_008315.1:g.5930T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.-35T>C (TBX3) MANE Select | ENSP00000257567.2:n.-35T>C | |
| ENST00000257566.7:c.-35T>C (TBX3) | ENSP00000257566.3:n.-35T>C | |
| ENST00000349155.6:c.-35T>C (TBX3) | ENSP00000257567.2:n.-35T>C | |
| ENST00000552054.1:n.200T>C (TBX3) | ||
| ENST00000613550.1:c.-35T>C (TBX3) | ENSP00000480048.1:n.-35T>C | |
| NM_005996.3:c.-35T>C (TBX3) | NP_005987.3:n.-35T>C | |
| NM_016569.3:c.-35T>C (TBX3) | NP_057653.3:n.-35T>C | |
| XR_002957433.1:n.114+601A>G (TBX3-AS1) | ||
| NM_005996.4:c.-35T>C (TBX3) MANE Select | NP_005987.3:n.-35T>C | |
| NM_016569.4:c.-35T>C (TBX3) | NP_057653.3:n.-35T>C |