HGVS | Genome Assembly |
---|---|
NC_000023.11:g.108084457T>A , CM000685.2:g.108084457T>A | GRCh38 |
NC_000023.10:g.107327687T>A , CM000685.1:g.107327687T>A | GRCh37 |
NC_000023.9:g.107214343T>A | NCBI36 |
NG_012521.1:g.12162A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217958.8:c.*517A>T MANE Select | ENSP00000217958.3:n.*517A>T | |
ENST00000217958.7:c.*517A>T | ENSP00000217958.3:n.*517A>T | |
NM_002814.3:c.*517A>T | NP_002805.1:n.*517A>T | |
NM_170750.2:c.*663A>T | NP_736606.1:n.*663A>T | |
NM_002814.4:c.*517A>T MANE Select | NP_002805.1:n.*517A>T | |
NM_170750.3:c.*663A>T | NP_736606.1:n.*663A>T |