HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2866849T>C , CM000686.2:g.2866849T>C | GRCh38 |
NC_000024.9:g.2734890T>C , CM000686.1:g.2734890T>C | GRCh37 |
NC_000024.8:g.2794890T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000250784.13:c.747T>C MANE Select | ENSP00000250784.7:p.Ala249= | |
ENST00000250784.12:c.747T>C | ENSP00000250784.7:p.Ala249= | |
ENST00000430575.1:c.774T>C | ENSP00000415317.1:p.Ala258= | |
ENST00000477725.1:n.891T>C | ||
ENST00000515575.1:n.42+12078T>C | ||
NM_001008.3:c.747T>C | NP_000999.1:p.Ala249= | |
NM_001008.4:c.747T>C MANE Select | NP_000999.1:p.Ala249= |