HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96250961G>A , CM000664.2:g.96250961G>A | GRCh38 |
NC_000002.11:g.96916699G>A , CM000664.1:g.96916699G>A | GRCh37 |
NC_000002.10:g.96280426G>A | NCBI36 |
NG_027695.1:g.20053C>T , LRG_528:g.20053C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258439.8:c.*2847C>T MANE Select | ENSP00000258439.3:n.*2847C>T | |
ENST00000258439.7:c.*2847C>T | ENSP00000258439.2:n.*2847C>T | |
NM_001193304.2:c.*2847C>T | NP_001180233.1:n.*2847C>T | |
NM_017849.3:c.*2847C>T , LRG_528t1:c.*2847C>T | NP_060319.1:n.*2847C>T | |
XM_017004450.1:c.*2148C>T | XP_016859939.1:n.*2148C>T | |
XM_017004452.1:c.*2847C>T | XP_016859941.1:n.*2847C>T | |
NM_001193304.3:c.*2847C>T | NP_001180233.1:n.*2847C>T | |
NM_017849.4:c.*2847C>T MANE Select | NP_060319.1:n.*2847C>T |