HGVS | Genome Assembly |
---|---|
NC_000002.12:g.19998302G>A , CM000664.2:g.19998302G>A | GRCh38 |
NC_000002.11:g.20198063G>A , CM000664.1:g.20198063G>A | GRCh37 |
NC_000002.10:g.20061544G>A | NCBI36 |
NG_008087.1:g.19393C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407540.8:c.1169-1043C>T (MATN3) MANE Select | ENSP00000383894.3:n.1169-1043C>T | |
ENST00000407540.7:c.1169-1043C>T (MATN3) | ENSP00000383894.3:n.1169-1043C>T | |
ENST00000421259.2:c.1043-1043C>T (MATN3) | ENSP00000398753.2:n.1043-1043C>T | |
NM_002381.4:c.1169-1043C>T (MATN3) | NP_002372.1:n.1169-1043C>T | |
NR_110235.1:n.292-904G>A (WDR35-DT) | ||
NM_002381.5:c.1169-1043C>T (MATN3) MANE Select | NP_002372.1:n.1169-1043C>T |