Linked Data
ClinVar Variation Id:
1037561
ClinVar RCV Id:
RCV001340739
dbSNP Id:
rs28940314
ExAC:
14:68191267 C / A
gnomAD v2:
14-68191267-C-A
gnomAD v4:
14-67724550-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67724550C>A , CM000676.2:g.67724550C>A | GRCh38 |
| NC_000014.8:g.68191267C>A , CM000676.1:g.68191267C>A | GRCh37 |
| NC_000014.7:g.67261020C>A | NCBI36 |
| NG_008321.1:g.27665C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551171.6:c.146C>A (RDH12) MANE Select | ENSP00000449079.1:p.Thr49Lys | |
| ENST00000267502.3:c.146C>A (RDH12) | ENSP00000267502.3:p.Thr49Lys | |
| ENST00000551171.5:c.146C>A (RDH12) | ENSP00000449079.1:p.Thr49Lys | |
| NM_152443.2:c.146C>A (RDH12) | NP_689656.2:p.Thr49Lys | |
| XM_017020925.2:c.1313-10645C>A (GPHN) | XP_016876414.1:n.1313-10645C>A | |
| NM_152443.3:c.146C>A (RDH12) MANE Select | NP_689656.2:p.Thr49Lys |