Linked Data
dbSNP Id:
rs1026858084
gnomAD v2:
14-68195844-G-A
gnomAD v3:
14-67729127-G-A
gnomAD v4:
14-67729127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729127G>A , CM000676.2:g.67729127G>A | GRCh38 |
| NC_000014.8:g.68195844G>A , CM000676.1:g.68195844G>A | GRCh37 |
| NC_000014.7:g.67265597G>A | NCBI36 |
| NG_008321.1:g.32242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.659-64G>A (RDH12) MANE Select | ENSP00000449079.1:n.659-64G>A | |
| ENST00000267502.3:c.659-64G>A (RDH12) | ENSP00000267502.3:n.659-64G>A | |
| ENST00000394455.6:n.3288+84C>T (ZFYVE26) | ||
| ENST00000551171.5:c.659-64G>A (RDH12) | ENSP00000449079.1:n.659-64G>A | |
| ENST00000552873.1:n.28-64G>A (RDH12) | ||
| NM_152443.2:c.659-64G>A (RDH12) | NP_689656.2:n.659-64G>A | |
| XM_017020925.2:c.1313-6068G>A (GPHN) | XP_016876414.1:n.1313-6068G>A | |
| XM_017021125.1:c.*615C>T (ZFYVE26) | XP_016876614.1:n.*615C>T | |
| NM_152443.3:c.659-64G>A (RDH12) MANE Select | NP_689656.2:n.659-64G>A |