Linked Data
ClinVar Variation Id:
536988
dbSNP Id:
rs1239043055
gnomAD v2:
14-68195965-G-T
gnomAD v3:
14-67729248-G-T
gnomAD v4:
14-67729248-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729248G>T , CM000676.2:g.67729248G>T | GRCh38 |
| NC_000014.8:g.68195965G>T , CM000676.1:g.68195965G>T | GRCh37 |
| NC_000014.7:g.67265718G>T | NCBI36 |
| NG_008321.1:g.32363G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.716G>T (RDH12) MANE Select | ENSP00000449079.1:p.Arg239Leu | |
| ENST00000267502.3:c.716G>T (RDH12) | ENSP00000267502.3:p.Arg239Leu | |
| ENST00000394455.6:n.3251C>A (ZFYVE26) | ||
| ENST00000551171.5:c.716G>T (RDH12) | ENSP00000449079.1:p.Arg239Leu | |
| ENST00000552873.1:n.85G>T (RDH12) | ||
| NM_152443.2:c.716G>T (RDH12) | NP_689656.2:p.Arg239Leu | |
| XM_017020925.2:c.1313-5947G>T (GPHN) | XP_016876414.1:n.1313-5947G>T | |
| XM_017021125.1:c.*494C>A (ZFYVE26) | XP_016876614.1:n.*494C>A | |
| NM_152443.3:c.716G>T (RDH12) MANE Select | NP_689656.2:p.Arg239Leu |