HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114045190T>A , CM000672.2:g.114045190T>A | GRCh38 |
NC_000010.10:g.115804949T>A , CM000672.1:g.115804949T>A | GRCh37 |
NC_000010.9:g.115794939T>A | NCBI36 |
NG_012187.1:g.6144T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.1058T>A MANE Select | ENSP00000358301.2:p.Leu353Gln | |
ENST00000369295.3:c.1058T>A | ENSP00000358301.2:p.Leu353Gln | |
NM_000684.2:c.1058T>A | NP_000675.1:p.Leu353Gln | |
NM_000684.3:c.1058T>A MANE Select | NP_000675.1:p.Leu353Gln |