Linked Data
ClinVar Variation Id:
986946
dbSNP Id:
rs368489658
ExAC:
14:68191854 G / A
gnomAD v2:
14-68191854-G-A
gnomAD v4:
14-67725137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67725137G>A , CM000676.2:g.67725137G>A | GRCh38 |
| NC_000014.8:g.68191854G>A , CM000676.1:g.68191854G>A | GRCh37 |
| NC_000014.7:g.67261607G>A | NCBI36 |
| NG_008321.1:g.28252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.226G>A (RDH12) MANE Select | ENSP00000449079.1:p.Gly76Arg | |
| ENST00000267502.3:c.226G>A (RDH12) | ENSP00000267502.3:p.Gly76Arg | |
| ENST00000551171.5:c.226G>A (RDH12) | ENSP00000449079.1:p.Gly76Arg | |
| NM_152443.2:c.226G>A (RDH12) | NP_689656.2:p.Gly76Arg | |
| XM_017020925.2:c.1313-10058G>A (GPHN) | XP_016876414.1:n.1313-10058G>A | |
| NM_152443.3:c.226G>A (RDH12) MANE Select | NP_689656.2:p.Gly76Arg |