HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40644091C>A , CM000675.2:g.40644091C>A | GRCh38 |
NC_000013.10:g.41218228C>A , CM000675.1:g.41218228C>A | GRCh37 |
NC_000013.9:g.40116228C>A | NCBI36 |
NG_023244.1:g.27507G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379561.6:c.630+21492G>T MANE Select | ENSP00000368880.4:n.630+21492G>T | |
ENST00000655267.1:n.333+21492G>T | ||
ENST00000660760.1:n.296-10843G>T | ||
ENST00000379561.5:c.630+21492G>T | ENSP00000368880.4:n.630+21492G>T | |
NM_002015.3:c.630+21492G>T | NP_002006.2:n.630+21492G>T | |
XR_941536.1:n.1226+1248G>T | ||
NM_002015.4:c.630+21492G>T MANE Select | NP_002006.2:n.630+21492G>T |