HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518166C= , CM000676.2:g.77518166C= | GRCh38 |
NC_000014.8:g.77984509C= , CM000676.1:g.77984509C= | GRCh37 |
NC_000014.7:g.77054262C= | NCBI36 |
NG_028282.1:g.103602G= , LRG_371:g.103602G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.473G= | ||
ENST00000687688.1:n.1204G= | ||
ENST00000692906.1:n.1173G= | ||
ENST00000216484.7:c.1441G= MANE Select | ENSP00000216484.2:p.Ala481= | |
ENST00000216484.6:c.1441G= | ENSP00000216484.2:p.Ala481= | |
ENST00000556607.1:c.269G= | ENSP00000451029.1:n.269G= | |
NM_004863.3:c.1441G= , LRG_371t1:c.1441G= | NP_004854.1:p.Ala481= | |
NM_004863.4:c.1441G= MANE Select | NP_004854.1:p.Ala481= |