HGVS | Genome Assembly |
---|---|
NC_000016.10:g.3963466C>T , CM000678.2:g.3963466C>T | GRCh38 |
NC_000016.9:g.4013467C>T , CM000678.1:g.4013467C>T | GRCh37 |
NC_000016.8:g.3953468C>T | NCBI36 |
NG_011434.1:g.157720G>A | |
NG_011434.2:g.157720G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000294016.8:c.*2309G>A MANE Select | ENSP00000294016.3:n.*2309G>A | |
ENST00000294016.7:c.*2309G>A | ENSP00000294016.3:n.*2309G>A | |
ENST00000576936.5:c.568-9950G>A | ||
NM_001116.3:c.*2309G>A | NP_001107.2:n.*2309G>A | |
XM_005255079.2:c.*2309G>A | XP_005255136.1:n.*2309G>A | |
XM_011522353.1:c.2928-9950G>A | XP_011520655.1:n.2928-9950G>A | |
XM_005255079.3:c.*2309G>A | XP_005255136.1:n.*2309G>A | |
XM_011522353.2:c.2928-9950G>A | XP_011520655.1:n.2928-9950G>A | |
NM_001116.4:c.*2309G>A MANE Select | NP_001107.2:n.*2309G>A |