HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612261G= , CM000679.2:g.41612261G= | GRCh38 |
NC_000017.10:g.39768513G= , CM000679.1:g.39768513G= | GRCh37 |
NC_000017.9:g.37022039G= | NCBI36 |
NG_008301.1:g.5567C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.428C= MANE Select | ENSP00000301653.3:p.Ala143= | |
ENST00000301653.8:c.428C= | ENSP00000301653.3:p.Ala143= | |
ENST00000588319.1:n.505C= | ||
ENST00000593067.1:c.-287C= | ENSP00000467124.1:n.-287C= | |
NM_005557.3:c.428C= | NP_005548.2:p.Ala143= | |
NM_005557.4:c.428C= MANE Select | NP_005548.2:p.Ala143= |