Linked Data
ClinVar Variation Id:
1999388
ClinVar RCV Id:
RCV002819568
dbSNP Id:
rs1422158083
gnomAD v2:
14-68195936-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729219C>T , CM000676.2:g.67729219C>T | GRCh38 |
| NC_000014.8:g.68195936C>T , CM000676.1:g.68195936C>T | GRCh37 |
| NC_000014.7:g.67265689C>T | NCBI36 |
| NG_008321.1:g.32334C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551171.6:c.687C>T (RDH12) MANE Select | ENSP00000449079.1:p.His229= | |
| ENST00000267502.3:c.687C>T (RDH12) | ENSP00000267502.3:p.His229= | |
| ENST00000394455.6:n.3280G>A (ZFYVE26) | ||
| ENST00000551171.5:c.687C>T (RDH12) | ENSP00000449079.1:p.His229= | |
| ENST00000552873.1:n.56C>T (RDH12) | ||
| NM_152443.2:c.687C>T (RDH12) | NP_689656.2:p.His229= | |
| XM_017020925.2:c.1313-5976C>T (GPHN) | XP_016876414.1:n.1313-5976C>T | |
| XM_017021125.1:c.*523G>A (ZFYVE26) | XP_016876614.1:n.*523G>A | |
| NM_152443.3:c.687C>T (RDH12) MANE Select | NP_689656.2:p.His229= |