Linked Data
ClinVar Variation Id:
2053
ClinVar RCV Id:
RCV000002134
dbSNP Id:
rs104894476
COSMIC:
COSM4929665
PubMed:
PMID:15322982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729220C>G , CM000676.2:g.67729220C>G | GRCh38 |
| NC_000014.8:g.68195937C>G , CM000676.1:g.68195937C>G | GRCh37 |
| NC_000014.7:g.67265690C>G | NCBI36 |
| NG_008321.1:g.32335C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.688C>G (RDH12) MANE Select | ENSP00000449079.1:p.Pro230Ala | |
| ENST00000267502.3:c.688C>G (RDH12) | ENSP00000267502.3:p.Pro230Ala | |
| ENST00000394455.6:n.3279G>C (ZFYVE26) | ||
| ENST00000551171.5:c.688C>G (RDH12) | ENSP00000449079.1:p.Pro230Ala | |
| ENST00000552873.1:n.57C>G (RDH12) | ||
| NM_152443.2:c.688C>G (RDH12) | NP_689656.2:p.Pro230Ala | |
| XM_017020925.2:c.1313-5975C>G (GPHN) | XP_016876414.1:n.1313-5975C>G | |
| XM_017021125.1:c.*522G>C (ZFYVE26) | XP_016876614.1:n.*522G>C | |
| NM_152443.3:c.688C>G (RDH12) MANE Select | NP_689656.2:p.Pro230Ala |