Linked Data
ClinVar Variation Id:
2054
dbSNP Id:
rs104894475
gnomAD v2:
14-68193700-C-G
gnomAD v3:
14-67726983-C-G
gnomAD v4:
14-67726983-C-G
PubMed:
PMID:15322982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67726983C>G , CM000676.2:g.67726983C>G | GRCh38 |
| NC_000014.8:g.68193700C>G , CM000676.1:g.68193700C>G | GRCh37 |
| NC_000014.7:g.67263453C>G | NCBI36 |
| NG_008321.1:g.30098C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.451C>G (RDH12) MANE Select | ENSP00000449079.1:p.His151Asp | |
| ENST00000267502.3:c.451C>G (RDH12) | ENSP00000267502.3:p.His151Asp | |
| ENST00000551171.5:c.451C>G (RDH12) | ENSP00000449079.1:p.His151Asp | |
| NM_152443.2:c.451C>G (RDH12) | NP_689656.2:p.His151Asp | |
| XM_017020925.2:c.1313-8212C>G (GPHN) | XP_016876414.1:n.1313-8212C>G | |
| NM_152443.3:c.451C>G (RDH12) MANE Select | NP_689656.2:p.His151Asp |