HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73946329G>T , CM000677.2:g.73946329G>T | GRCh38 |
NC_000015.9:g.74238670G>T , CM000677.1:g.74238670G>T | GRCh37 |
NC_000015.8:g.72025723G>T | NCBI36 |
NG_011466.1:g.24882G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261921.8:c.1212-88G>T MANE Select | ENSP00000261921.7:n.1212-88G>T | |
ENST00000261921.7:c.1212-88G>T | ENSP00000261921.7:n.1212-88G>T | |
ENST00000566011.5:c.*100-88G>T | ENSP00000457827.1:n.*100-88G>T | |
NM_005576.2:c.1212-88G>T | NP_005567.2:n.1212-88G>T | |
XR_931824.1:n.1729-88G>T | ||
NM_005576.3:c.1212-88G>T | NP_005567.2:n.1212-88G>T | |
XM_017022179.1:c.165-88G>T | XP_016877668.1:n.165-88G>T | |
XR_931824.2:n.1718-88G>T | ||
NM_005576.4:c.1212-88G>T MANE Select | NP_005567.2:n.1212-88G>T |