Linked Data
dbSNP Id:
rs12153855
gnomAD v2:
6-32074804-T-C
gnomAD v3:
6-32107027-T-C
gnomAD v4:
6-32107027-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32107027T>C , CM000668.2:g.32107027T>C | GRCh38 |
| NC_000006.11:g.32074804T>C , CM000668.1:g.32074804T>C | GRCh37 |
| NC_000006.10:g.32182782T>C | NCBI36 |
| NG_008337.2:g.7348A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644971.2:c.-9+2154A>G (TNXB) MANE Select | ENSP00000496448.1:n.-9+2154A>G | |
| ENST00000647633.1:c.-9+2154A>G (TNXB) | ENSP00000497649.1:n.-9+2154A>G | |
| ENST00000375244.7:c.-9+2154A>G (TNXB) | ENSP00000364393.3:n.-9+2154A>G | |
| ENST00000442721.1:c.-9+7967A>G (TNXB) | ENSP00000389946.1:n.-9+7967A>G | |
| ENST00000479795.1:c.-9+2154A>G (TNXB) | ENSP00000418248.1:n.-9+2154A>G | |
| ENST00000486148.1:n.41+2154A>G (TNXB) | ||
| ENST00000494022.1:n.290-8821A>G (ATF6B) | ||
| NM_019105.6:c.-9+2154A>G (TNXB) | NP_061978.6:n.-9+2154A>G | |
| NM_001365276.1:c.-9+2154A>G (TNXB) | NP_001352205.1:n.-9+2154A>G | |
| NM_019105.7:c.-9+2154A>G (TNXB) | NP_061978.6:n.-9+2154A>G | |
| NM_001365276.2:c.-9+2154A>G (TNXB) MANE Select | NP_001352205.1:n.-9+2154A>G | |
| NM_019105.8:c.-9+2154A>G (TNXB) | NP_061978.6:n.-9+2154A>G |