Linked Data
dbSNP Id:
rs747901495
ExAC:
14:68195910 A / G
gnomAD v2:
14-68195910-A-G
gnomAD v4:
14-67729193-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729193A>G , CM000676.2:g.67729193A>G | GRCh38 |
| NC_000014.8:g.68195910A>G , CM000676.1:g.68195910A>G | GRCh37 |
| NC_000014.7:g.67265663A>G | NCBI36 |
| NG_008321.1:g.32308A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.661A>G (RDH12) MANE Select | ENSP00000449079.1:p.Thr221Ala | |
| ENST00000267502.3:c.661A>G (RDH12) | ENSP00000267502.3:p.Thr221Ala | |
| ENST00000394455.6:n.3288+18T>C (ZFYVE26) | ||
| ENST00000551171.5:c.661A>G (RDH12) | ENSP00000449079.1:p.Thr221Ala | |
| ENST00000552873.1:n.30A>G (RDH12) | ||
| NM_152443.2:c.661A>G (RDH12) | NP_689656.2:p.Thr221Ala | |
| XM_017020925.2:c.1313-6002A>G (GPHN) | XP_016876414.1:n.1313-6002A>G | |
| XM_017021125.1:c.*549T>C (ZFYVE26) | XP_016876614.1:n.*549T>C | |
| NM_152443.3:c.661A>G (RDH12) MANE Select | NP_689656.2:p.Thr221Ala |