HGVS | Genome Assembly |
---|---|
NC_000015.10:g.67066174T>G , CM000677.2:g.67066174T>G | GRCh38 |
NC_000015.9:g.67358512T>G , CM000677.1:g.67358512T>G | GRCh37 |
NC_000015.8:g.65145566T>G | NCBI36 |
NG_011990.1:g.5318T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559460.6:c.-110+2230T>G | ENSP00000453082.2:n.-110+2230T>G | |
ENST00000560424.2:c.20T>G | ENSP00000455540.2:p.Phe7Cys | |
ENST00000327367.9:c.20T>G MANE Select | ENSP00000332973.4:p.Phe7Cys | |
ENST00000327367.8:c.20T>G | ENSP00000332973.4:p.Phe7Cys | |
ENST00000559460.5:c.-110+2230T>G | ENSP00000453082.1:n.-110+2230T>G | |
NM_005902.3:c.20T>G | NP_005893.1:p.Phe7Cys | |
XM_011521559.1:c.20T>G | XP_011519861.1:p.Phe7Cys | |
XM_011521559.3:c.20T>G | XP_011519861.1:p.Phe7Cys | |
NM_005902.4:c.20T>G MANE Select | NP_005893.1:p.Phe7Cys |