HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665862A>T , CM000679.2:g.39665862A>T | GRCh38 |
NC_000017.10:g.37822115A>T , CM000679.1:g.37822115A>T | GRCh37 |
NC_000017.9:g.35075641A>T | NCBI36 |
NG_008892.1:g.5517A>T , LRG_210:g.5517A>T | |
NG_042278.1:g.2882A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.3:c.257A>T MANE Select | ENSP00000312624.2:p.Gln86Leu | |
ENST00000309889.2:c.257A>T | ENSP00000312624.2:p.Gln86Leu | |
ENST00000578283.1:c.185A>T | ENSP00000462787.1:p.Gln62Leu | |
NM_003673.3:c.257A>T , LRG_210t1:c.257A>T | NP_003664.1:p.Gln86Leu | |
NM_003673.4:c.257A>T MANE Select | NP_003664.1:p.Gln86Leu |