HGVS | Genome Assembly |
---|---|
NC_000002.12:g.19998294A>G , CM000664.2:g.19998294A>G | GRCh38 |
NC_000002.11:g.20198055A>G , CM000664.1:g.20198055A>G | GRCh37 |
NC_000002.10:g.20061536A>G | NCBI36 |
NG_008087.1:g.19401T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407540.8:c.1169-1035T>C (MATN3) MANE Select | ENSP00000383894.3:n.1169-1035T>C | |
ENST00000407540.7:c.1169-1035T>C (MATN3) | ENSP00000383894.3:n.1169-1035T>C | |
ENST00000421259.2:c.1043-1035T>C (MATN3) | ENSP00000398753.2:n.1043-1035T>C | |
NM_002381.4:c.1169-1035T>C (MATN3) | NP_002372.1:n.1169-1035T>C | |
NR_110235.1:n.292-912A>G (WDR35-DT) | ||
NM_002381.5:c.1169-1035T>C (MATN3) MANE Select | NP_002372.1:n.1169-1035T>C |