Linked Data
ClinVar Variation Id:
313845
dbSNP Id:
rs535737403
gnomAD v3:
14-67733902-G-C
gnomAD v4:
14-67733902-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67733902G>C , CM000676.2:g.67733902G>C | GRCh38 |
| NC_000014.8:g.68200619G>C , CM000676.1:g.68200619G>C | GRCh37 |
| NC_000014.7:g.67270372G>C | NCBI36 |
| NG_008321.1:g.37017G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.*54G>C (RDH12) MANE Select | ENSP00000449079.1:n.*54G>C | |
| ENST00000267502.3:c.*54G>C (RDH12) | ENSP00000267502.3:n.*54G>C | |
| ENST00000394455.6:n.2680-4083C>G (ZFYVE26) | ||
| ENST00000551171.5:c.*54G>C (RDH12) | ENSP00000449079.1:n.*54G>C | |
| NM_152443.2:c.*54G>C (RDH12) | NP_689656.2:n.*54G>C | |
| XM_006720093.2:c.7417-4083C>G (ZFYVE26) | XP_006720156.1:n.7417-4083C>G | |
| XM_017020925.2:c.1313-1293G>C (GPHN) | XP_016876414.1:n.1313-1293G>C | |
| XM_017021125.1:c.7435-4083C>G (ZFYVE26) | XP_016876614.1:n.7435-4083C>G | |
| NM_152443.3:c.*54G>C (RDH12) MANE Select | NP_689656.2:n.*54G>C |