HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215799103T>A , CM000663.2:g.215799103T>A | GRCh38 |
NC_000001.10:g.215972445T>A , CM000663.1:g.215972445T>A | GRCh37 |
NC_000001.9:g.214039068T>A | NCBI36 |
NG_009497.1:g.629294A>T | |
NG_009497.2:g.629346A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.9762A>T MANE Select | ENSP00000305941.3:p.Glu3254Asp | |
ENST00000674083.1:c.9762A>T | ENSP00000501296.1:p.Glu3254Asp | |
ENST00000307340.7:c.9762A>T | ENSP00000305941.3:p.Glu3254Asp | |
NM_206933.2:c.9762A>T | NP_996816.2:p.Glu3254Asp | |
NM_206933.3:c.9762A>T | NP_996816.2:p.Glu3254Asp | |
NM_206933.4:c.9762A>T MANE Select | NP_996816.3:p.Glu3254Asp |