HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2866848C>T , CM000686.2:g.2866848C>T | GRCh38 |
NC_000024.9:g.2734889C>T , CM000686.1:g.2734889C>T | GRCh37 |
NC_000024.8:g.2794889C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000250784.13:c.746C>T MANE Select | ENSP00000250784.7:p.Ala249Val | |
ENST00000250784.12:c.746C>T | ENSP00000250784.7:p.Ala249Val | |
ENST00000430575.1:c.773C>T | ENSP00000415317.1:p.Ala258Val | |
ENST00000477725.1:n.890C>T | ||
ENST00000515575.1:n.42+12077C>T | ||
NM_001008.3:c.746C>T | NP_000999.1:p.Ala249Val | |
NM_001008.4:c.746C>T MANE Select | NP_000999.1:p.Ala249Val |