HGVS | Genome Assembly |
---|---|
NC_000018.10:g.63478364G>A , CM000680.2:g.63478364G>A | GRCh38 |
NC_000018.9:g.61145597G>A , CM000680.1:g.61145597G>A | GRCh37 |
NC_000018.8:g.59296577G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382771.9:c.-8+1319G>A MANE Select | ENSP00000372221.4:n.-8+1319G>A | |
ENST00000382771.8:c.-8+1319G>A | ENSP00000372221.4:n.-8+1319G>A | |
ENST00000424602.1:c.-8+1072G>A | ENSP00000408821.1:n.-8+1072G>A | |
ENST00000489441.5:c.-8+1319G>A | ENSP00000467158.1:n.-8+1319G>A | |
NM_002639.4:c.-8+1319G>A | NP_002630.2:n.-8+1319G>A | |
NM_002639.5:c.-8+1319G>A MANE Select | NP_002630.2:n.-8+1319G>A |