HGVS | Genome Assembly |
---|---|
NC_000008.11:g.24952558T>A , CM000670.2:g.24952558T>A | GRCh38 |
NC_000008.10:g.24810071T>A , CM000670.1:g.24810071T>A | GRCh37 |
NC_000008.9:g.24865988T>A | NCBI36 |
NG_008492.1:g.9060A>T , LRG_259:g.9060A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000610854.2:c.*252A>T MANE Select | ENSP00000482169.2:n.*252A>T | |
ENST00000610854.1:c.*252A>T | ENSP00000482169.1:n.*252A>T | |
ENST00000619417.1:c.*749A>T | ENSP00000483690.1:n.*749A>T | |
NM_006158.4:c.*252A>T , LRG_259t1:c.*252A>T | NP_006149.2:n.*252A>T | |
NM_006158.5:c.*252A>T MANE Select | NP_006149.2:n.*252A>T |