HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6019613C= , CM000674.2:g.6019613C= | GRCh38 |
NC_000012.11:g.6128779C= , CM000674.1:g.6128779C= | GRCh37 |
NC_000012.10:g.5999040C= | NCBI36 |
NG_009072.1:g.110058G= | |
NG_009072.2:g.110058G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3805G= MANE Select | ENSP00000261405.5:p.Asp1269= | |
ENST00000261405.9:c.3805G= | ENSP00000261405.5:p.Asp1269= | |
ENST00000538635.5:n.421-25679G= | ||
ENST00000539641.1:n.603G= | ||
NM_000552.3:c.3805G= | NP_000543.2:p.Asp1269= | |
NM_000552.4:c.3805G= | NP_000543.2:p.Asp1269= | |
NM_000552.5:c.3805G= MANE Select | NP_000543.3:p.Asp1269= |