Linked Data
ClinVar Variation Id:
161116
dbSNP Id:
rs606231424
ExAC:
14:68159182 G / A
gnomAD v2:
14-68159182-G-A
gnomAD v3:
14-67692465-G-A
gnomAD v4:
14-67692465-G-A
COSMIC:
COSM1223460
PubMed:
PMID:24916380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67692465G>A , CM000676.2:g.67692465G>A | GRCh38 |
| NC_000014.8:g.68159182G>A , CM000676.1:g.68159182G>A | GRCh37 |
| NC_000014.7:g.67228935G>A | NCBI36 |
| NG_042282.1:g.8329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381346.9:c.322C>T (RDH11) MANE Select | ENSP00000370750.4:p.Arg108Ter | |
| ENST00000381346.8:c.322C>T (RDH11) | ENSP00000370750.4:p.Arg108Ter | |
| ENST00000428130.6:c.322C>T (RDH11) | ENSP00000416395.2:p.Arg108Ter | |
| ENST00000553384.5:c.283C>T (RDH11) | ENSP00000452079.1:p.Arg95Ter | |
| ENST00000553578.5:n.387C>T (RDH11) | ||
| ENST00000553816.5:n.336C>T (RDH11) | ||
| ENST00000554035.5:c.19C>T (RDH11) | ENSP00000450802.1:p.Arg7Ter | |
| ENST00000554731.1:c.75-2044C>T (RDH11) | ENSP00000451280.1:n.75-2044C>T | |
| ENST00000556692.1:n.752C>T (RDH11) | ||
| ENST00000557273.5:c.193+469C>T (RDH11) | ENSP00000450651.1:n.193+469C>T | |
| ENST00000557331.1:c.*14C>T (RDH11) | ENSP00000452108.1:n.*14C>T | |
| ENST00000557726.1:c.193+469C>T (RDH11) | ENSP00000450435.1:n.193+469C>T | |
| NM_001252650.1:c.322C>T (RDH11) | NP_001239579.1:p.Arg108Ter | |
| NM_016026.3:c.322C>T (RDH11) | NP_057110.3:p.Arg108Ter | |
| XM_017020925.2:c.1313-42730G>A (GPHN) | XP_016876414.1:n.1313-42730G>A | |
| NM_016026.4:c.322C>T (RDH11) MANE Select | NP_057110.3:p.Arg108Ter | |
| NM_001252650.2:c.322C>T (RDH11) | NP_001239579.1:p.Arg108Ter |