HGVS | Genome Assembly |
---|---|
NC_000001.11:g.206867232G>A , CM000663.2:g.206867232G>A | GRCh38 |
NC_000001.10:g.207040577G>A , CM000663.1:g.207040577G>A | GRCh37 |
NC_000001.9:g.205107200G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367098.6:c.379-152G>A MANE Select | ENSP00000356065.1:n.379-152G>A | |
ENST00000367096.7:c.379-152G>A | ENSP00000356063.3:n.379-152G>A | |
ENST00000367098.5:c.379-152G>A | ENSP00000356065.1:n.379-152G>A | |
ENST00000391930.3:c.378+596G>A | ENSP00000375796.2:n.378+596G>A | |
NM_018724.3:c.379-152G>A | NP_061194.2:n.379-152G>A | |
XM_005273152.2:c.634-152G>A | XP_005273209.1:n.634-152G>A | |
XM_005273152.3:c.634-152G>A | XP_005273209.1:n.634-152G>A | |
NM_001385165.1:c.378+596G>A | NP_001372094.1:n.378+596G>A | |
NM_001385166.1:c.379-152G>A | NP_001372095.1:n.379-152G>A | |
NM_001385167.1:c.379-152G>A | NP_001372096.1:n.379-152G>A | |
NM_018724.4:c.379-152G>A MANE Select | NP_061194.2:n.379-152G>A |