HGVS | Genome Assembly |
---|---|
NC_000002.12:g.19997269C>T , CM000664.2:g.19997269C>T | GRCh38 |
NC_000002.11:g.20197030C>T , CM000664.1:g.20197030C>T | GRCh37 |
NC_000002.10:g.20060511C>T | NCBI36 |
NG_008087.1:g.20426G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407540.8:c.1169-10G>A (MATN3) MANE Select | ENSP00000383894.3:n.1169-10G>A | |
ENST00000407540.7:c.1169-10G>A (MATN3) | ENSP00000383894.3:n.1169-10G>A | |
ENST00000421259.2:c.1043-10G>A (MATN3) | ENSP00000398753.2:n.1043-10G>A | |
ENST00000478482.1:n.585G>A (MATN3) | ||
NM_002381.4:c.1169-10G>A (MATN3) | NP_002372.1:n.1169-10G>A | |
NR_110235.1:n.292-1937C>T (WDR35-DT) | ||
NM_002381.5:c.1169-10G>A (MATN3) MANE Select | NP_002372.1:n.1169-10G>A |