Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56567790C>G , CM000678.2:g.56567790C>G | GRCh38 |
| NC_000016.9:g.56601702C>G , CM000678.1:g.56601702C>G | GRCh37 |
| NC_000016.8:g.55159203C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682930.1:c.42+2885G>C (BBS2) | ENSP00000507981.1:n.42+2885G>C | |
| ENST00000219162.4:c.71C>G (MT4) MANE Select | ENSP00000219162.3:p.Thr24Ser | |
| ENST00000219162.3:c.71C>G (MT4) | ENSP00000219162.3:p.Thr24Ser | |
| NM_032935.2:c.71C>G (MT4) | NP_116324.1:p.Thr24Ser | |
| NM_032935.3:c.71C>G (MT4) MANE Select | NP_116324.2:p.Thr24Ser |