HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816781G= , CM000681.2:g.4816781G= | GRCh38 |
NC_000019.9:g.4816793G= , CM000681.1:g.4816793G= | GRCh37 |
NC_000019.8:g.4767793G= | NCBI36 |
NG_031998.1:g.19962C= , LRG_358:g.19962C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1597C= MANE Select | ENSP00000248244.4:p.Leu533= | |
ENST00000248244.5:c.1597C= | ENSP00000248244.4:p.Leu533= | |
ENST00000621756.1:c.1180C= | ENSP00000479467.1:p.Leu394= | |
NM_182919.3:c.1597C= , LRG_358t1:c.1597C= | NP_891549.1:p.Leu533= | |
NM_001385678.1:c.1555C= | NP_001372607.1:p.Leu519= | |
NM_001385679.1:c.1462C= | NP_001372608.1:p.Leu488= | |
NM_001385680.1:c.955C= | NP_001372609.1:p.Leu319= | |
NM_182919.4:c.1597C= MANE Select | NP_891549.1:p.Leu533= |