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