HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44292261G>C , CM000683.2:g.44292261G>C | GRCh38 |
NC_000021.8:g.45712144G>C , CM000683.1:g.45712144G>C | GRCh37 |
NC_000021.7:g.44536572G>C | NCBI36 |
NG_009556.1:g.11382G>C , LRG_18:g.11382G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.996-41G>C MANE Select | ENSP00000291582.5:n.996-41G>C | |
ENST00000291582.5:c.996-41G>C | ENSP00000291582.5:n.996-41G>C | |
ENST00000337909.5:n.457-41G>C | ||
ENST00000397994.8:n.457-41G>C | ||
ENST00000527919.5:n.1726-41G>C | ||
ENST00000530812.5:n.2743-41G>C | ||
NM_000383.3:c.996-41G>C | NP_000374.1:n.996-41G>C | |
XM_011529551.1:c.993-41G>C | XP_011527853.1:n.993-41G>C | |
NM_000383.4:c.996-41G>C MANE Select | NP_000374.1:n.996-41G>C |