HGVS | Genome Assembly |
---|---|
NC_000011.10:g.18611476C>A , CM000673.2:g.18611476C>A | GRCh38 |
NC_000011.9:g.18633023C>A , CM000673.1:g.18633023C>A | GRCh37 |
NC_000011.8:g.18589599C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000336349.6:c.1964+1G>T MANE Select | ENSP00000337991.5:n.1964+1G>T | |
ENST00000336349.5:c.1964+1G>T | ENSP00000337991.5:n.1964+1G>T | |
NM_194285.2:c.1964+1G>T | NP_919261.2:n.1964+1G>T | |
XM_011519919.1:c.1712+1G>T | XP_011518221.1:n.1712+1G>T | |
XM_011519919.2:c.1712+1G>T | XP_011518221.1:n.1712+1G>T | |
NM_194285.3:c.1964+1G>T MANE Select | NP_919261.2:n.1964+1G>T |