Linked Data
ClinVar Variation Id:
2048
ClinVar RCV Id:
RCV000002129
dbSNP Id:
rs104894470
PubMed:
PMID:15258582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67727097C>T , CM000676.2:g.67727097C>T | GRCh38 |
| NC_000014.8:g.68193814C>T , CM000676.1:g.68193814C>T | GRCh37 |
| NC_000014.7:g.67263567C>T | NCBI36 |
| NG_008321.1:g.30212C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.565C>T (RDH12) MANE Select | ENSP00000449079.1:p.Gln189Ter | |
| ENST00000267502.3:c.565C>T (RDH12) | ENSP00000267502.3:p.Gln189Ter | |
| ENST00000551171.5:c.565C>T (RDH12) | ENSP00000449079.1:p.Gln189Ter | |
| NM_152443.2:c.565C>T (RDH12) | NP_689656.2:p.Gln189Ter | |
| XM_017020925.2:c.1313-8098C>T (GPHN) | XP_016876414.1:n.1313-8098C>T | |
| NM_152443.3:c.565C>T (RDH12) MANE Select | NP_689656.2:p.Gln189Ter |