Linked Data
ClinVar Variation Id:
2000910
ClinVar RCV Id:
RCV002810735
MyVariant Identifiers:
chr14:g.68195909C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67729192C>A , CM000676.2:g.67729192C>A | GRCh38 |
| NC_000014.8:g.68195909C>A , CM000676.1:g.68195909C>A | GRCh37 |
| NC_000014.7:g.67265662C>A | NCBI36 |
| NG_008321.1:g.32307C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551171.6:c.660C>A (RDH12) MANE Select | ENSP00000449079.1:p.Gly220= | |
| ENST00000267502.3:c.660C>A (RDH12) | ENSP00000267502.3:p.Gly220= | |
| ENST00000394455.6:n.3288+19G>T (ZFYVE26) | ||
| ENST00000551171.5:c.660C>A (RDH12) | ENSP00000449079.1:p.Gly220= | |
| ENST00000552873.1:n.29C>A (RDH12) | ||
| NM_152443.2:c.660C>A (RDH12) | NP_689656.2:p.Gly220= | |
| XM_017020925.2:c.1313-6003C>A (GPHN) | XP_016876414.1:n.1313-6003C>A | |
| XM_017021125.1:c.*550G>T (ZFYVE26) | XP_016876614.1:n.*550G>T | |
| NM_152443.3:c.660C>A (RDH12) MANE Select | NP_689656.2:p.Gly220= |