HGVS | Genome Assembly |
---|---|
NC_000023.11:g.116170939G>A , CM000685.2:g.116170939G>A | GRCh38 |
NC_000023.10:g.115302192G>A , CM000685.1:g.115302192G>A | GRCh37 |
NC_000023.9:g.115216220G>A | NCBI36 |
NG_016326.1:g.5235G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371906.5:c.-95-29G>A MANE Select | ENSP00000360973.4:n.-95-29G>A | |
ENST00000681852.1:c.-36+123G>A | ENSP00000505750.1:n.-36+123G>A | |
ENST00000371906.4:c.-95-29G>A | ENSP00000360973.4:n.-95-29G>A | |
NM_000686.4:c.-95-29G>A | NP_000677.2:n.-95-29G>A | |
XM_011537533.1:c.-36+123G>A | XP_011535835.1:n.-36+123G>A | |
NM_000686.5:c.-95-29G>A MANE Select | NP_000677.2:n.-95-29G>A | |
NM_001385624.1:c.-36+123G>A | NP_001372553.1:n.-36+123G>A |