Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14885985A>G , CM000674.2:g.14885985A>G | GRCh38 |
| NC_000012.11:g.15038919A>G , CM000674.1:g.15038919A>G | GRCh37 |
| NC_000012.10:g.14930186A>G | NCBI36 |
| NG_023331.1:g.4935T>C | |
| NG_023331.2:g.4935T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000900.4:c.-194T>C (MGP) | NP_000891.2:n.-194T>C |
| NM_001190839.2:c.-194T>C (MGP) | NP_001177768.1:n.-194T>C |
| ENST00000527783.1:n.76-13184A>G (C12orf60) | |
| ENST00000533472.1:n.87-18022A>G (C12orf60) | |
| ENST00000543822.1:n.91+179A>G (C12orf60) | |
| ENST00000648334.1:n.126-18022A>G (C12orf60) |