HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2866799A>C , CM000686.2:g.2866799A>C | GRCh38 |
NC_000024.9:g.2734840A>C , CM000686.1:g.2734840A>C | GRCh37 |
NC_000024.8:g.2794840A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000250784.13:c.697A>C MANE Select | ENSP00000250784.7:p.Lys233Gln | |
ENST00000250784.12:c.697A>C | ENSP00000250784.7:p.Lys233Gln | |
ENST00000430575.1:c.724A>C | ENSP00000415317.1:p.Lys242Gln | |
ENST00000477725.1:n.841A>C | ||
ENST00000515575.1:n.42+12028A>C | ||
NM_001008.3:c.697A>C | NP_000999.1:p.Lys233Gln | |
NM_001008.4:c.697A>C MANE Select | NP_000999.1:p.Lys233Gln |