Linked Data
ClinVar Variation Id:
2056
ClinVar RCV Id:
RCV000002137
dbSNP Id:
rs104894472
PubMed:
PMID:15322982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67727055T>C , CM000676.2:g.67727055T>C | GRCh38 |
| NC_000014.8:g.68193772T>C , CM000676.1:g.68193772T>C | GRCh37 |
| NC_000014.7:g.67263525T>C | NCBI36 |
| NG_008321.1:g.30170T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551171.6:c.523T>C (RDH12) MANE Select | ENSP00000449079.1:p.Ser175Pro | |
| ENST00000267502.3:c.523T>C (RDH12) | ENSP00000267502.3:p.Ser175Pro | |
| ENST00000551171.5:c.523T>C (RDH12) | ENSP00000449079.1:p.Ser175Pro | |
| NM_152443.2:c.523T>C (RDH12) | NP_689656.2:p.Ser175Pro | |
| XM_017020925.2:c.1313-8140T>C (GPHN) | XP_016876414.1:n.1313-8140T>C | |
| NM_152443.3:c.523T>C (RDH12) MANE Select | NP_689656.2:p.Ser175Pro |