Linked Data
ClinVar Variation Id:
161115
dbSNP Id:
rs606231423
gnomAD v2:
14-68159305-G-A
gnomAD v3:
14-67692588-G-A
gnomAD v4:
14-67692588-G-A
PubMed:
PMID:24916380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67692588G>A , CM000676.2:g.67692588G>A | GRCh38 |
| NC_000014.8:g.68159305G>A , CM000676.1:g.68159305G>A | GRCh37 |
| NC_000014.7:g.67229058G>A | NCBI36 |
| NG_042282.1:g.8206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381346.9:c.199C>T (RDH11) MANE Select | ENSP00000370750.4:p.Arg67Ter | |
| ENST00000381346.8:c.199C>T (RDH11) | ENSP00000370750.4:p.Arg67Ter | |
| ENST00000428130.6:c.199C>T (RDH11) | ENSP00000416395.2:p.Arg67Ter | |
| ENST00000553384.5:c.160C>T (RDH11) | ENSP00000452079.1:p.Arg54Ter | |
| ENST00000553578.5:n.264C>T (RDH11) | ||
| ENST00000553816.5:n.213C>T (RDH11) | ||
| ENST00000554731.1:c.75-2167C>T (RDH11) | ENSP00000451280.1:n.75-2167C>T | |
| ENST00000556692.1:n.629C>T (RDH11) | ||
| ENST00000557273.5:c.193+346C>T (RDH11) | ENSP00000450651.1:n.193+346C>T | |
| ENST00000557331.1:c.80C>T (RDH11) | ENSP00000452108.1:p.Ser27Leu | |
| ENST00000557726.1:c.193+346C>T (RDH11) | ENSP00000450435.1:n.193+346C>T | |
| NM_001252650.1:c.199C>T (RDH11) | NP_001239579.1:p.Arg67Ter | |
| NM_016026.3:c.199C>T (RDH11) | NP_057110.3:p.Arg67Ter | |
| XM_017020925.2:c.1313-42607G>A (GPHN) | XP_016876414.1:n.1313-42607G>A | |
| NM_016026.4:c.199C>T (RDH11) MANE Select | NP_057110.3:p.Arg67Ter | |
| NM_001252650.2:c.199C>T (RDH11) | NP_001239579.1:p.Arg67Ter |