HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44292413C= , CM000683.2:g.44292413C= | GRCh38 |
NC_000021.8:g.45712296C= , CM000683.1:g.45712296C= | GRCh37 |
NC_000021.7:g.44536724C= | NCBI36 |
NG_009556.1:g.11534C= , LRG_18:g.11534C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.1095+12C= MANE Select | ENSP00000291582.5:n.1095+12C= | |
ENST00000291582.5:c.1095+12C= | ENSP00000291582.5:n.1095+12C= | |
ENST00000337909.5:n.556+12C= | ||
ENST00000397994.8:n.556+12C= | ||
ENST00000527919.5:n.1825+12C= | ||
ENST00000530812.5:n.2842+12C= | ||
NM_000383.3:c.1095+12C= | NP_000374.1:n.1095+12C= | |
XM_011529551.1:c.1092+12C= | XP_011527853.1:n.1092+12C= | |
NM_000383.4:c.1095+12C= MANE Select | NP_000374.1:n.1095+12C= |