Linked Data
dbSNP Id:
rs1043784
gnomAD v2:
6-7881931-T-C
gnomAD v3:
6-7881698-T-C
gnomAD v4:
6-7881698-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7881698T>C , CM000668.2:g.7881698T>C | GRCh38 |
| NC_000006.11:g.7881931T>C , CM000668.1:g.7881931T>C | GRCh37 |
| NC_000006.10:g.7826930T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283147.7:c.*1355T>C (BMP6) MANE Select | ENSP00000283147.6:n.*1355T>C | |
| ENST00000379757.9:c.*1446A>G (TXNDC5) MANE Select | ENSP00000369081.4:n.*1446A>G | |
| ENST00000379757.8:c.*1446A>G (TXNDC5) | ENSP00000369081.4:n.*1446A>G | |
| ENST00000439343.2:c.2854A>G (BLOC1S5-TXNDC5) | ENSP00000454697.1:n.2854A>G | |
| ENST00000460138.5:n.2523A>G (TXNDC5) | ||
| NM_001145549.2:c.*1446A>G (TXNDC5) | NP_001139021.1:n.*1446A>G | |
| NM_001718.4:c.*1355T>C (BMP6) | NP_001709.1:n.*1355T>C | |
| NM_030810.3:c.*1446A>G (TXNDC5) | NP_110437.2:n.*1446A>G | |
| NR_037616.1:n.2904A>G (BLOC1S5-TXNDC5) | ||
| NM_001145549.3:c.*1446A>G (TXNDC5) | NP_001139021.1:n.*1446A>G | |
| NM_001718.5:c.*1355T>C (BMP6) | NP_001709.1:n.*1355T>C | |
| NM_030810.4:c.*1446A>G (TXNDC5) | NP_110437.2:n.*1446A>G | |
| NM_001718.6:c.*1355T>C (BMP6) MANE Select | NP_001709.1:n.*1355T>C | |
| NM_030810.5:c.*1446A>G (TXNDC5) MANE Select | NP_110437.2:n.*1446A>G | |
| NM_001145549.4:c.*1446A>G (TXNDC5) | NP_001139021.1:n.*1446A>G |