Linked Data
ClinVar Variation Id:
2057
ClinVar RCV Id:
RCV000002138
dbSNP Id:
rs104894473
PubMed:
PMID:15322982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67724556T>A , CM000676.2:g.67724556T>A | GRCh38 |
| NC_000014.8:g.68191273T>A , CM000676.1:g.68191273T>A | GRCh37 |
| NC_000014.7:g.67261026T>A | NCBI36 |
| NG_008321.1:g.27671T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.152T>A (RDH12) MANE Select | ENSP00000449079.1:p.Ile51Asn | |
| ENST00000267502.3:c.152T>A (RDH12) | ENSP00000267502.3:p.Ile51Asn | |
| ENST00000551171.5:c.152T>A (RDH12) | ENSP00000449079.1:p.Ile51Asn | |
| NM_152443.2:c.152T>A (RDH12) | NP_689656.2:p.Ile51Asn | |
| XM_017020925.2:c.1313-10639T>A (GPHN) | XP_016876414.1:n.1313-10639T>A | |
| NM_152443.3:c.152T>A (RDH12) MANE Select | NP_689656.2:p.Ile51Asn |