HGVS | Genome Assembly |
---|---|
NC_000004.12:g.122456327C= , CM000666.2:g.122456327C= | GRCh38 |
NC_000004.11:g.123377482C= , CM000666.1:g.123377482C= | GRCh37 |
NC_000004.10:g.123596932C= | NCBI36 |
NG_016779.1:g.5169G= |
HGVS | Amino-acid Change |
---|---|
NM_000586.4:c.114G= MANE Select | NP_000577.2:p.Leu38= |
ENST00000226730.5:c.114G= MANE Select | ENSP00000226730.5:p.Leu38= |
NM_000586.3:c.114G= | NP_000577.2:p.Leu38= |
ENST00000226730.4:c.114G= | ENSP00000226730.4:p.Leu38= |
ENST00000477645.1:n.114G= | |
XM_017008177.1:c.114G= | XP_016863666.1:p.Leu38= |