Linked Data
ClinVar Variation Id:
1604156
ClinVar RCV Id:
RCV002142427
dbSNP Id:
rs1487124240
gnomAD v4:
14-67729213-A-G
MyVariant Identifiers:
chr14:g.68195930A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729213A>G , CM000676.2:g.67729213A>G | GRCh38 |
| NC_000014.8:g.68195930A>G , CM000676.1:g.68195930A>G | GRCh37 |
| NC_000014.7:g.67265683A>G | NCBI36 |
| NG_008321.1:g.32328A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.681A>G (RDH12) MANE Select | ENSP00000449079.1:p.Ala227= | |
| ENST00000267502.3:c.681A>G (RDH12) | ENSP00000267502.3:p.Ala227= | |
| ENST00000394455.6:n.3286T>C (ZFYVE26) | ||
| ENST00000551171.5:c.681A>G (RDH12) | ENSP00000449079.1:p.Ala227= | |
| ENST00000552873.1:n.50A>G (RDH12) | ||
| NM_152443.2:c.681A>G (RDH12) | NP_689656.2:p.Ala227= | |
| XM_017020925.2:c.1313-5982A>G (GPHN) | XP_016876414.1:n.1313-5982A>G | |
| XM_017021125.1:c.*529T>C (ZFYVE26) | XP_016876614.1:n.*529T>C | |
| NM_152443.3:c.681A>G (RDH12) MANE Select | NP_689656.2:p.Ala227= |