HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912572A= , CM000674.2:g.4912572A= | GRCh38 |
NC_000012.11:g.5021738A= , CM000674.1:g.5021738A= | GRCh37 |
NC_000012.10:g.4891999A= | NCBI36 |
NG_011815.1:g.7666A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1194A= MANE Select | ENSP00000371985.3:p.Leu398= | |
ENST00000543874.3:n.105+2100A= | ||
ENST00000639306.1:c.1032A= | ENSP00000492506.1:p.Leu344= | |
ENST00000639680.1:c.76+306A= | ||
ENST00000382545.3:c.1194A= | ENSP00000371985.3:p.Leu398= | |
ENST00000541095.1:n.105+2100A= | ||
ENST00000543874.2:n.96+2100A= | ||
NM_000217.2:c.1194A= | NP_000208.2:p.Leu398= | |
NM_000217.3:c.1194A= MANE Select | NP_000208.2:p.Leu398= |