HGVS | Genome Assembly |
---|---|
NC_000012.12:g.54532251G>A , CM000674.2:g.54532251G>A | GRCh38 |
NC_000012.11:g.54926035G>A , CM000674.1:g.54926035G>A | GRCh37 |
NC_000012.10:g.53212302G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293373.11:c.2862+1G>A MANE Select | ENSP00000293373.6:n.2862+1G>A | |
ENST00000293373.10:c.2862+1G>A | ENSP00000293373.6:n.2862+1G>A | |
ENST00000545638.2:c.2712+1G>A | ENSP00000445596.2:n.2712+1G>A | |
ENST00000548221.5:c.*1567+1G>A | ENSP00000447246.1:n.*1567+1G>A | |
ENST00000548980.1:n.44+1G>A | ||
NM_001184976.1:c.2712+1G>A | NP_001171905.1:n.2712+1G>A | |
NM_005337.4:c.2862+1G>A | NP_005328.2:n.2862+1G>A | |
NM_005337.5:c.2862+1G>A MANE Select | NP_005328.2:n.2862+1G>A | |
NM_001184976.2:c.2712+1G>A | NP_001171905.1:n.2712+1G>A |