HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127854301G>A , CM000671.2:g.127854301G>A | GRCh38 |
NC_000009.11:g.130616580G>A , CM000671.1:g.130616580G>A | GRCh37 |
NC_000009.10:g.129656401G>A | NCBI36 |
NG_009551.1:g.5468C>T , LRG_589:g.5468C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373203.9:c.55C>T MANE Select | ENSP00000362299.4:p.Leu19Phe | |
ENST00000344849.4:c.55C>T | ENSP00000341917.3:p.Leu19Phe | |
ENST00000373203.8:c.55C>T | ENSP00000362299.4:p.Leu19Phe | |
NM_000118.3:c.55C>T , LRG_589t1:c.55C>T | NP_000109.1:p.Leu19Phe | |
NM_001114753.2:c.55C>T , LRG_589t2:c.55C>T | NP_001108225.1:p.Leu19Phe | |
NM_001114753.3:c.55C>T MANE Select | NP_001108225.1:p.Leu19Phe |