Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20003169G= , CM000664.2:g.20003169G= | GRCh38 |
| NC_000002.11:g.20202930G= , CM000664.1:g.20202930G= | GRCh37 |
| NC_000002.10:g.20066411G= | NCBI36 |
| NG_008087.1:g.14526C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002381.5:c.908C= (MATN3) MANE Select | NP_002372.1:p.Thr303= |
| ENST00000407540.8:c.908C= (MATN3) MANE Select | ENSP00000383894.3:p.Thr303= |
| NM_002381.4:c.908C= (MATN3) | NP_002372.1:p.Thr303= |
| NR_110235.1:n.364-851G= (WDR35-DT) | |
| ENST00000407540.7:c.908C= (MATN3) | ENSP00000383894.3:p.Thr303= |
| ENST00000421259.2:c.791-1089C= (MATN3) | ENSP00000398753.2:n.791-1089C= |