HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14507016A>T , CM000674.2:g.14507016A>T | GRCh38 |
NC_000012.11:g.14659950A>T , CM000674.1:g.14659950A>T | GRCh37 |
NC_000012.10:g.14551217A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000240617.10:c.1289T>A MANE Select | ENSP00000240617.5:p.Leu430Ter | |
ENST00000240617.9:c.1289T>A | ENSP00000240617.5:p.Leu430Ter | |
NM_024829.5:c.1289T>A | NP_079105.4:p.Leu430Ter | |
NM_024829.6:c.1289T>A MANE Select | NP_079105.4:p.Leu430Ter |