HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25013129A>T , CM000685.2:g.25013129A>T | GRCh38 |
NC_000023.10:g.25031246A>T , CM000685.1:g.25031246A>T | GRCh37 |
NC_000023.9:g.24941167A>T | NCBI36 |
NG_008281.1:g.7820T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.866T>A MANE Select | ENSP00000368332.4:p.Leu289Gln | |
ENST00000379044.4:c.866T>A | ENSP00000368332.4:p.Leu289Gln | |
NM_139058.2:c.866T>A | NP_620689.1:p.Leu289Gln | |
NM_139058.3:c.866T>A MANE Select | NP_620689.1:p.Leu289Gln |