Linked Data
dbSNP Id:
rs1171210510
gnomAD v2:
14-68195859-C-T
gnomAD v3:
14-67729142-C-T
gnomAD v4:
14-67729142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729142C>T , CM000676.2:g.67729142C>T | GRCh38 |
| NC_000014.8:g.68195859C>T , CM000676.1:g.68195859C>T | GRCh37 |
| NC_000014.7:g.67265612C>T | NCBI36 |
| NG_008321.1:g.32257C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.659-49C>T (RDH12) MANE Select | ENSP00000449079.1:n.659-49C>T | |
| ENST00000267502.3:c.659-49C>T (RDH12) | ENSP00000267502.3:n.659-49C>T | |
| ENST00000394455.6:n.3288+69G>A (ZFYVE26) | ||
| ENST00000551171.5:c.659-49C>T (RDH12) | ENSP00000449079.1:n.659-49C>T | |
| ENST00000552873.1:n.28-49C>T (RDH12) | ||
| NM_152443.2:c.659-49C>T (RDH12) | NP_689656.2:n.659-49C>T | |
| XM_017020925.2:c.1313-6053C>T (GPHN) | XP_016876414.1:n.1313-6053C>T | |
| XM_017021125.1:c.*600G>A (ZFYVE26) | XP_016876614.1:n.*600G>A | |
| NM_152443.3:c.659-49C>T (RDH12) MANE Select | NP_689656.2:n.659-49C>T |