dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6829708C>G , CM000674.2:g.6829708C>G | GRCh38 |
| NC_000012.11:g.6938872C>G , CM000674.1:g.6938872C>G | GRCh37 |
| NC_000012.10:g.6809133C>G | NCBI36 |
| NG_033740.1:g.6336C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290510.10:c.499-151C>G (P3H3) MANE Select | ENSP00000478600.1:n.499-151C>G | |
| ENST00000290510.9:c.499-151C>G (P3H3) | ENSP00000478600.1:n.499-151C>G | |
| ENST00000536140.5:n.685C>G (P3H3) | ||
| ENST00000544813.5:n.64-157C>G (P3H3) | ||
| ENST00000545321.1:c.570-151C>G (GPR162) | ||
| NM_014262.4:c.499-151C>G (P3H3) | NP_055077.2:n.499-151C>G | |
| NM_014262.5:c.499-151C>G (P3H3) MANE Select | NP_055077.2:n.499-151C>G |