HGVS | Genome Assembly |
---|---|
NC_000002.12:g.86030073C>A , CM000664.2:g.86030073C>A | GRCh38 |
NC_000002.11:g.86257196C>A , CM000664.1:g.86257196C>A | GRCh37 |
NC_000002.10:g.86110707C>A | NCBI36 |
NG_050742.2:g.81083G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263857.11:c.4779+123G>T MANE Select | ENSP00000263857.6:n.4779+123G>T | |
ENST00000263857.10:c.4779+123G>T | ENSP00000263857.6:n.4779+123G>T | |
ENST00000409681.1:c.4596+123G>T | ENSP00000386300.1:n.4596+123G>T | |
NM_015425.3:c.4779+123G>T | NP_056240.2:n.4779+123G>T | |
XM_006711983.2:c.4455+123G>T | XP_006712046.1:n.4455+123G>T | |
NM_015425.5:c.4779+123G>T | NP_056240.2:n.4779+123G>T | |
NM_015425.6:c.4779+123G>T MANE Select | NP_056240.2:n.4779+123G>T |