HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762834A>T , CM000672.2:g.94762834A>T | GRCh38 |
NC_000010.10:g.96522591A>T , CM000672.1:g.96522591A>T | GRCh37 |
NC_000010.9:g.96512581A>T | NCBI36 |
NG_008384.2:g.5129A>T | |
NG_008384.3:g.5154A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.129A>T MANE Select | ENSP00000360372.3:p.Leu43= | |
ENST00000371321.7:c.129A>T | ENSP00000360372.3:p.Leu43= | |
ENST00000464755.1:c.932-12224A>T | ENSP00000483243.1:n.932-12224A>T | |
ENST00000480405.2:c.129A>T | ENSP00000483847.1:p.Leu43= | |
NM_000769.2:c.129A>T | NP_000760.1:p.Leu43= | |
NM_000769.4:c.129A>T MANE Select | NP_000760.1:p.Leu43= |