HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2845473G= , CM000686.2:g.2845473G= | GRCh38 |
NC_000024.9:g.2713514G= , CM000686.1:g.2713514G= | GRCh37 |
NC_000024.8:g.2773514G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.508-173G= | ||
ENST00000681787.1:n.564-173G= | ||
ENST00000681940.1:n.107-173G= | ||
ENST00000250784.13:c.263-173G= MANE Select | ENSP00000250784.7:n.263-173G= | |
ENST00000250784.12:c.263-173G= | ENSP00000250784.7:n.263-173G= | |
ENST00000430575.1:c.290-173G= | ENSP00000415317.1:n.290-173G= | |
NM_001008.3:c.263-173G= | NP_000999.1:n.263-173G= | |
NM_001008.4:c.263-173G= MANE Select | NP_000999.1:n.263-173G= |