Linked Data
ClinVar Variation Id:
739622
ClinVar RCV Id:
RCV002065880
dbSNP Id:
rs1256943978
gnomAD v2:
14-68191829-T-C
gnomAD v4:
14-67725112-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67725112T>C , CM000676.2:g.67725112T>C | GRCh38 |
| NC_000014.8:g.68191829T>C , CM000676.1:g.68191829T>C | GRCh37 |
| NC_000014.7:g.67261582T>C | NCBI36 |
| NG_008321.1:g.28227T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.201T>C (RDH12) MANE Select | ENSP00000449079.1:p.Tyr67= | |
| ENST00000267502.3:c.201T>C (RDH12) | ENSP00000267502.3:p.Tyr67= | |
| ENST00000551171.5:c.201T>C (RDH12) | ENSP00000449079.1:p.Tyr67= | |
| NM_152443.2:c.201T>C (RDH12) | NP_689656.2:p.Tyr67= | |
| XM_017020925.2:c.1313-10083T>C (GPHN) | XP_016876414.1:n.1313-10083T>C | |
| NM_152443.3:c.201T>C (RDH12) MANE Select | NP_689656.2:p.Tyr67= |