Linked Data
ClinVar Variation Id:
2050
dbSNP Id:
rs104894471
ExAC:
14:68191305 C / T
gnomAD v2:
14-68191305-C-T
gnomAD v3:
14-67724588-C-T
gnomAD v4:
14-67724588-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67724588C>T , CM000676.2:g.67724588C>T | GRCh38 |
| NC_000014.8:g.68191305C>T , CM000676.1:g.68191305C>T | GRCh37 |
| NC_000014.7:g.67261058C>T | NCBI36 |
| NG_008321.1:g.27703C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551171.6:c.184C>T (RDH12) MANE Select | ENSP00000449079.1:p.Arg62Ter | |
| ENST00000267502.3:c.184C>T (RDH12) | ENSP00000267502.3:p.Arg62Ter | |
| ENST00000551171.5:c.184C>T (RDH12) | ENSP00000449079.1:p.Arg62Ter | |
| NM_152443.2:c.184C>T (RDH12) | NP_689656.2:p.Arg62Ter | |
| XM_017020925.2:c.1313-10607C>T (GPHN) | XP_016876414.1:n.1313-10607C>T | |
| NM_152443.3:c.184C>T (RDH12) MANE Select | NP_689656.2:p.Arg62Ter |