Revel Score:
ENST00000551171 (MANE Select)
0.822
ENST00000267502
0.822
ENST00000539142
0.822
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67733807T>C , CM000676.2:g.67733807T>C | GRCh38 |
| NC_000014.8:g.68200524T>C , CM000676.1:g.68200524T>C | GRCh37 |
| NC_000014.7:g.67270277T>C | NCBI36 |
| NG_008321.1:g.36922T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.910T>C (RDH12) MANE Select | ENSP00000449079.1:p.Trp304Arg | |
| ENST00000267502.3:c.910T>C (RDH12) | ENSP00000267502.3:p.Trp304Arg | |
| ENST00000394455.6:n.2680-3988A>G (ZFYVE26) | ||
| ENST00000551171.5:c.910T>C (RDH12) | ENSP00000449079.1:p.Trp304Arg | |
| NM_152443.2:c.910T>C (RDH12) | NP_689656.2:p.Trp304Arg | |
| XM_006720093.2:c.7417-3988A>G (ZFYVE26) | XP_006720156.1:n.7417-3988A>G | |
| XM_017020925.2:c.1313-1388T>C (GPHN) | XP_016876414.1:n.1313-1388T>C | |
| XM_017021125.1:c.7435-3988A>G (ZFYVE26) | XP_016876614.1:n.7435-3988A>G | |
| NM_152443.3:c.910T>C (RDH12) MANE Select | NP_689656.2:p.Trp304Arg |