Linked Data
ClinVar Variation Id:
1103006
ClinVar RCV Id:
RCV001426520
dbSNP Id:
rs1187659538
gnomAD v2:
14-68195933-G-T
gnomAD v4:
14-67729216-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729216G>T , CM000676.2:g.67729216G>T | GRCh38 |
| NC_000014.8:g.68195933G>T , CM000676.1:g.68195933G>T | GRCh37 |
| NC_000014.7:g.67265686G>T | NCBI36 |
| NG_008321.1:g.32331G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.684G>T (RDH12) MANE Select | ENSP00000449079.1:p.Val228= | |
| ENST00000267502.3:c.684G>T (RDH12) | ENSP00000267502.3:p.Val228= | |
| ENST00000394455.6:n.3283C>A (ZFYVE26) | ||
| ENST00000551171.5:c.684G>T (RDH12) | ENSP00000449079.1:p.Val228= | |
| ENST00000552873.1:n.53G>T (RDH12) | ||
| NM_152443.2:c.684G>T (RDH12) | NP_689656.2:p.Val228= | |
| XM_017020925.2:c.1313-5979G>T (GPHN) | XP_016876414.1:n.1313-5979G>T | |
| XM_017021125.1:c.*526C>A (ZFYVE26) | XP_016876614.1:n.*526C>A | |
| NM_152443.3:c.684G>T (RDH12) MANE Select | NP_689656.2:p.Val228= |