Linked Data
dbSNP Id:
rs753564958
ExAC:
14:68195868 A / C
gnomAD v2:
14-68195868-A-C
gnomAD v3:
14-67729151-A-C
gnomAD v4:
14-67729151-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729151A>C , CM000676.2:g.67729151A>C | GRCh38 |
| NC_000014.8:g.68195868A>C , CM000676.1:g.68195868A>C | GRCh37 |
| NC_000014.7:g.67265621A>C | NCBI36 |
| NG_008321.1:g.32266A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.659-40A>C (RDH12) MANE Select | ENSP00000449079.1:n.659-40A>C | |
| ENST00000267502.3:c.659-40A>C (RDH12) | ENSP00000267502.3:n.659-40A>C | |
| ENST00000394455.6:n.3288+60T>G (ZFYVE26) | ||
| ENST00000551171.5:c.659-40A>C (RDH12) | ENSP00000449079.1:n.659-40A>C | |
| ENST00000552873.1:n.28-40A>C (RDH12) | ||
| NM_152443.2:c.659-40A>C (RDH12) | NP_689656.2:n.659-40A>C | |
| XM_017020925.2:c.1313-6044A>C (GPHN) | XP_016876414.1:n.1313-6044A>C | |
| XM_017021125.1:c.*591T>G (ZFYVE26) | XP_016876614.1:n.*591T>G | |
| NM_152443.3:c.659-40A>C (RDH12) MANE Select | NP_689656.2:n.659-40A>C |