HGVS | Genome Assembly |
---|---|
NC_000015.10:g.67065943T>G , CM000677.2:g.67065943T>G | GRCh38 |
NC_000015.9:g.67358281T>G , CM000677.1:g.67358281T>G | GRCh37 |
NC_000015.8:g.65145335T>G | NCBI36 |
NG_011990.1:g.5087T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559460.6:c.-110+1999T>G | ENSP00000453082.2:n.-110+1999T>G | |
ENST00000560424.2:c.-212T>G | ENSP00000455540.2:n.-212T>G | |
ENST00000327367.9:c.-212T>G MANE Select | ENSP00000332973.4:n.-212T>G | |
ENST00000327367.8:c.-212T>G | ENSP00000332973.4:n.-212T>G | |
ENST00000559460.5:c.-110+1999T>G | ENSP00000453082.1:n.-110+1999T>G | |
NM_005902.3:c.-212T>G | NP_005893.1:n.-212T>G | |
XM_011521559.1:c.-212T>G | XP_011519861.1:n.-212T>G | |
NM_005902.4:c.-212T>G MANE Select | NP_005893.1:n.-212T>G |