HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951906A>T , CM000670.2:g.19951906A>T | GRCh38 |
NC_000008.10:g.19809417A>T , CM000670.1:g.19809417A>T | GRCh37 |
NC_000008.9:g.19853697A>T | NCBI36 |
NG_008855.1:g.17836A>T | |
NG_008855.2:g.55190A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.387A>T MANE Select | ENSP00000497642.1:p.Lys129Asn | |
ENST00000311322.8:c.387A>T | ENSP00000309757.6:p.Lys129Asn | |
ENST00000520959.5:c.159A>T | ENSP00000428496.1:p.Lys53Asn | |
ENST00000524029.5:c.387A>T | ENSP00000428237.1:p.Lys129Asn | |
NM_000237.2:c.387A>T | NP_000228.1:p.Lys129Asn | |
NM_000237.3:c.387A>T MANE Select | NP_000228.1:p.Lys129Asn |