HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35995542T>A , CM000681.2:g.35995542T>A | GRCh38 |
NC_000019.9:g.36486444T>A , CM000681.1:g.36486444T>A | GRCh37 |
NC_000019.8:g.41178284T>A | NCBI36 |
NG_016869.1:g.5355T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378887.4:c.268T>A MANE Select | ENSP00000368165.2:p.Cys90Ser | |
ENST00000378887.3:c.268T>A | ENSP00000368165.2:p.Cys90Ser | |
NM_001042631.2:c.268T>A | NP_001036096.1:p.Ser90Thr | |
NM_001042631.3:c.268T>A MANE Select | NP_001036096.2:p.Cys90Ser |