HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2854475C>T , CM000686.2:g.2854475C>T | GRCh38 |
NC_000024.9:g.2722516C>T , CM000686.1:g.2722516C>T | GRCh37 |
NC_000024.8:g.2782516C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000681940.1:n.205-125C>T | ||
ENST00000250784.13:c.361-125C>T MANE Select | ENSP00000250784.7:n.361-125C>T | |
ENST00000250784.12:c.361-125C>T | ENSP00000250784.7:n.361-125C>T | |
ENST00000430575.1:c.388-125C>T | ENSP00000415317.1:n.388-125C>T | |
ENST00000477725.1:n.380C>T | ||
NM_001008.3:c.361-125C>T | NP_000999.1:n.361-125C>T | |
NM_001008.4:c.361-125C>T MANE Select | NP_000999.1:n.361-125C>T |