Linked Data
ClinVar Variation Id:
780037
ClinVar RCV Id:
RCV000961047
dbSNP Id:
rs111331197
ExAC:
6:7883468 C / T
gnomAD v2:
6-7883468-C-T
gnomAD v3:
6-7883235-C-T
gnomAD v4:
6-7883235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7883235C>T , CM000668.2:g.7883235C>T | GRCh38 |
| NC_000006.11:g.7883468C>T , CM000668.1:g.7883468C>T | GRCh37 |
| NC_000006.10:g.7828467C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379757.9:c.1208G>A (TXNDC5) MANE Select | ENSP00000369081.4:p.Arg403Gln | |
| ENST00000379757.8:c.1208G>A (TXNDC5) | ENSP00000369081.4:p.Arg403Gln | |
| ENST00000439343.2:c.1317G>A (BLOC1S5-TXNDC5) | ENSP00000454697.1:n.1317G>A | |
| ENST00000460138.5:n.986G>A (TXNDC5) | ||
| ENST00000473453.2:c.884G>A (TXNDC5) | ENSP00000420784.1:p.Arg295Gln | |
| ENST00000475802.1:n.502G>A (TXNDC5) | ||
| NM_001145549.2:c.884G>A (TXNDC5) | NP_001139021.1:p.Arg295Gln | |
| NM_030810.3:c.1208G>A (TXNDC5) | NP_110437.2:p.Arg403Gln | |
| NR_037616.1:n.1367G>A (BLOC1S5-TXNDC5) | ||
| NM_001145549.3:c.884G>A (TXNDC5) | NP_001139021.1:p.Arg295Gln | |
| NM_030810.4:c.1208G>A (TXNDC5) | NP_110437.2:p.Arg403Gln | |
| NM_030810.5:c.1208G>A (TXNDC5) MANE Select | NP_110437.2:p.Arg403Gln | |
| NM_001145549.4:c.884G>A (TXNDC5) | NP_001139021.1:p.Arg295Gln |