Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165769074A>T , CM000663.2:g.165769074A>T | GRCh38 |
| NC_000001.10:g.165738311A>T , CM000663.1:g.165738311A>T | GRCh37 |
| NC_000001.9:g.164004935A>T | NCBI36 |
| NG_032004.1:g.4849T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367881.9:c.-170T>A (TMCO1) | ENSP00000356856.5:n.-170T>A | |
| ENST00000580248.5:c.-182-805T>A (TMCO1) | ENSP00000462588.1:n.-182-805T>A | |
| NR_125374.1:n.146A>T (TMCO1-AS1) |