HGVS | Genome Assembly |
---|---|
NC_000015.10:g.67066349C>A , CM000677.2:g.67066349C>A | GRCh38 |
NC_000015.9:g.67358687C>A , CM000677.1:g.67358687C>A | GRCh37 |
NC_000015.8:g.65145741C>A | NCBI36 |
NG_011990.1:g.5493C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559460.6:c.-110+2405C>A | ENSP00000453082.2:n.-110+2405C>A | |
ENST00000560424.2:c.195C>A | ENSP00000455540.2:p.Ile65= | |
ENST00000327367.9:c.195C>A MANE Select | ENSP00000332973.4:p.Ile65= | |
ENST00000327367.8:c.195C>A | ENSP00000332973.4:p.Ile65= | |
ENST00000559460.5:c.-110+2405C>A | ENSP00000453082.1:n.-110+2405C>A | |
NM_005902.3:c.195C>A | NP_005893.1:p.Ile65= | |
XM_011521559.1:c.195C>A | XP_011519861.1:p.Ile65= | |
XM_011521559.3:c.195C>A | XP_011519861.1:p.Ile65= | |
NM_005902.4:c.195C>A MANE Select | NP_005893.1:p.Ile65= |