HGVS | Genome Assembly |
---|---|
NC_000012.12:g.64729001G= , CM000674.2:g.64729001G= | GRCh38 |
NC_000012.11:g.65122781G= , CM000674.1:g.65122781G= | GRCh37 |
NC_000012.10:g.63409048G= | NCBI36 |
NG_008955.1:g.35446C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258145.8:c.1155C= MANE Select | ENSP00000258145.3:p.Asp385= | |
ENST00000258145.7:c.1155C= | ENSP00000258145.3:p.Asp385= | |
ENST00000418919.6:c.987C= | ENSP00000413130.2:p.Asp329= | |
ENST00000537823.1:n.154C= | ||
ENST00000540196.5:c.557-5888C= | ||
ENST00000540883.1:n.218C= | ||
ENST00000541781.5:n.1210C= | ||
ENST00000542058.5:c.1095C= | ENSP00000444819.1:p.Asp365= | |
ENST00000543646.5:c.1251C= | ENSP00000438497.1:p.Asp417= | |
NM_002076.3:c.1155C= | NP_002067.1:p.Asp385= | |
NM_002076.4:c.1155C= MANE Select | NP_002067.1:p.Asp385= |