HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178774T>A , CM000673.2:g.89178774T>A | GRCh38 |
NC_000011.9:g.88911942T>A , CM000673.1:g.88911942T>A | GRCh37 |
NC_000011.8:g.88551590T>A | NCBI36 |
NG_008748.1:g.5903T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.819+2T>A MANE Select | ENSP00000263321.4:n.819+2T>A | |
ENST00000263321.5:c.819+2T>A | ENSP00000263321.4:n.819+2T>A | |
ENST00000526139.1:n.880+2T>A | ||
NM_000372.4:c.819+2T>A | NP_000363.1:n.819+2T>A | |
XM_011542970.1:c.819+2T>A | XP_011541272.1:n.819+2T>A | |
XM_011542970.2:c.819+2T>A | XP_011541272.1:n.819+2T>A | |
XR_001748321.1:n.2718-65241A>T | ||
XR_001748322.1:n.2733-65241A>T | ||
NM_000372.5:c.819+2T>A MANE Select | NP_000363.1:n.819+2T>A |