Linked Data
dbSNP Id:
rs1225936
gnomAD v2:
6-7885184-C-A
gnomAD v3:
6-7884951-C-A
gnomAD v4:
6-7884951-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7884951C>A , CM000668.2:g.7884951C>A | GRCh38 |
| NC_000006.11:g.7885184C>A , CM000668.1:g.7885184C>A | GRCh37 |
| NC_000006.10:g.7830183C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379757.9:c.1047-463G>T (TXNDC5) MANE Select | ENSP00000369081.4:n.1047-463G>T | |
| ENST00000379757.8:c.1047-463G>T (TXNDC5) | ENSP00000369081.4:n.1047-463G>T | |
| ENST00000439343.2:c.1156-463G>T (BLOC1S5-TXNDC5) | ENSP00000454697.1:n.1156-463G>T | |
| ENST00000460138.5:n.825-463G>T (TXNDC5) | ||
| ENST00000473453.2:c.723-463G>T (TXNDC5) | ENSP00000420784.1:n.723-463G>T | |
| ENST00000475802.1:n.341-463G>T (TXNDC5) | ||
| NM_001145549.2:c.723-463G>T (TXNDC5) | NP_001139021.1:n.723-463G>T | |
| NM_030810.3:c.1047-463G>T (TXNDC5) | NP_110437.2:n.1047-463G>T | |
| NR_037616.1:n.1206-463G>T (BLOC1S5-TXNDC5) | ||
| NM_001145549.3:c.723-463G>T (TXNDC5) | NP_001139021.1:n.723-463G>T | |
| NM_030810.4:c.1047-463G>T (TXNDC5) | NP_110437.2:n.1047-463G>T | |
| NM_030810.5:c.1047-463G>T (TXNDC5) MANE Select | NP_110437.2:n.1047-463G>T | |
| NM_001145549.4:c.723-463G>T (TXNDC5) | NP_001139021.1:n.723-463G>T |