HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2854482C>A , CM000686.2:g.2854482C>A | GRCh38 |
NC_000024.9:g.2722523C>A , CM000686.1:g.2722523C>A | GRCh37 |
NC_000024.8:g.2782523C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000681940.1:n.205-118C>A | ||
ENST00000250784.13:c.361-118C>A MANE Select | ENSP00000250784.7:n.361-118C>A | |
ENST00000250784.12:c.361-118C>A | ENSP00000250784.7:n.361-118C>A | |
ENST00000430575.1:c.388-118C>A | ENSP00000415317.1:n.388-118C>A | |
ENST00000477725.1:n.387C>A | ||
NM_001008.3:c.361-118C>A | NP_000999.1:n.361-118C>A | |
NM_001008.4:c.361-118C>A MANE Select | NP_000999.1:n.361-118C>A |