Linked Data
ClinVar Variation Id:
1084132
ClinVar RCV Id:
RCV001401044
dbSNP Id:
rs754817805
ExAC:
14:68195898 T / C
gnomAD v2:
14-68195898-T-C
gnomAD v3:
14-67729181-T-C
gnomAD v4:
14-67729181-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729181T>C , CM000676.2:g.67729181T>C | GRCh38 |
| NC_000014.8:g.68195898T>C , CM000676.1:g.68195898T>C | GRCh37 |
| NC_000014.7:g.67265651T>C | NCBI36 |
| NG_008321.1:g.32296T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.659-10T>C (RDH12) MANE Select | ENSP00000449079.1:n.659-10T>C | |
| ENST00000267502.3:c.659-10T>C (RDH12) | ENSP00000267502.3:n.659-10T>C | |
| ENST00000394455.6:n.3288+30A>G (ZFYVE26) | ||
| ENST00000551171.5:c.659-10T>C (RDH12) | ENSP00000449079.1:n.659-10T>C | |
| ENST00000552873.1:n.28-10T>C (RDH12) | ||
| NM_152443.2:c.659-10T>C (RDH12) | NP_689656.2:n.659-10T>C | |
| XM_017020925.2:c.1313-6014T>C (GPHN) | XP_016876414.1:n.1313-6014T>C | |
| XM_017021125.1:c.*561A>G (ZFYVE26) | XP_016876614.1:n.*561A>G | |
| NM_152443.3:c.659-10T>C (RDH12) MANE Select | NP_689656.2:n.659-10T>C |