Linked Data
dbSNP Id:
rs1186345997
gnomAD v2:
6-7881972-G-A
gnomAD v3:
6-7881739-G-A
gnomAD v4:
6-7881739-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7881739G>A , CM000668.2:g.7881739G>A | GRCh38 |
| NC_000006.11:g.7881972G>A , CM000668.1:g.7881972G>A | GRCh37 |
| NC_000006.10:g.7826971G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379757.9:c.*1405C>T (TXNDC5) MANE Select | ENSP00000369081.4:n.*1405C>T | |
| ENST00000379757.8:c.*1405C>T (TXNDC5) | ENSP00000369081.4:n.*1405C>T | |
| ENST00000439343.2:c.2813C>T (BLOC1S5-TXNDC5) | ENSP00000454697.1:n.2813C>T | |
| ENST00000460138.5:n.2482C>T (TXNDC5) | ||
| NM_001145549.2:c.*1405C>T (TXNDC5) | NP_001139021.1:n.*1405C>T | |
| NM_030810.3:c.*1405C>T (TXNDC5) | NP_110437.2:n.*1405C>T | |
| NR_037616.1:n.2863C>T (BLOC1S5-TXNDC5) | ||
| NM_001145549.3:c.*1405C>T (TXNDC5) | NP_001139021.1:n.*1405C>T | |
| NM_030810.4:c.*1405C>T (TXNDC5) | NP_110437.2:n.*1405C>T | |
| NM_030810.5:c.*1405C>T (TXNDC5) MANE Select | NP_110437.2:n.*1405C>T | |
| NM_001145549.4:c.*1405C>T (TXNDC5) | NP_001139021.1:n.*1405C>T |