Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56568862C>T , CM000678.2:g.56568862C>T | GRCh38 |
| NC_000016.9:g.56602774C>T , CM000678.1:g.56602774C>T | GRCh37 |
| NC_000016.8:g.55160275C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032935.3:c.119C>T (MT4) MANE Select | NP_116324.2:p.Pro40Leu |
| ENST00000219162.4:c.119C>T (MT4) MANE Select | ENSP00000219162.3:p.Pro40Leu |
| NM_032935.2:c.119C>T (MT4) | NP_116324.1:p.Pro40Leu |
| ENST00000219162.3:c.119C>T (MT4) | ENSP00000219162.3:p.Pro40Leu |
| ENST00000682930.1:c.42+1813G>A (BBS2) | ENSP00000507981.1:n.42+1813G>A |