HGVS | Genome Assembly |
---|---|
NC_000008.11:g.24952546T>A , CM000670.2:g.24952546T>A | GRCh38 |
NC_000008.10:g.24810059T>A , CM000670.1:g.24810059T>A | GRCh37 |
NC_000008.9:g.24865976T>A | NCBI36 |
NG_008492.1:g.9072A>T , LRG_259:g.9072A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000610854.2:c.*264A>T MANE Select | ENSP00000482169.2:n.*264A>T | |
ENST00000610854.1:c.*264A>T | ENSP00000482169.1:n.*264A>T | |
ENST00000619417.1:c.*761A>T | ENSP00000483690.1:n.*761A>T | |
NM_006158.4:c.*264A>T , LRG_259t1:c.*264A>T | NP_006149.2:n.*264A>T | |
NM_006158.5:c.*264A>T MANE Select | NP_006149.2:n.*264A>T |