HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816711A>T , CM000681.2:g.4816711A>T | GRCh38 |
NC_000019.9:g.4816723A>T , CM000681.1:g.4816723A>T | GRCh37 |
NC_000019.8:g.4767723A>T | NCBI36 |
NG_031998.1:g.20032T>A , LRG_358:g.20032T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000248244.6:c.1667T>A MANE Select | ENSP00000248244.4:p.Leu556Gln | |
ENST00000248244.5:c.1667T>A | ENSP00000248244.4:p.Leu556Gln | |
ENST00000621756.1:c.1250T>A | ENSP00000479467.1:p.Leu417Gln | |
NM_182919.3:c.1667T>A , LRG_358t1:c.1667T>A | NP_891549.1:p.Leu556Gln | |
NM_001385678.1:c.1625T>A | NP_001372607.1:p.Leu542Gln | |
NM_001385679.1:c.1532T>A | NP_001372608.1:p.Leu511Gln | |
NM_001385680.1:c.1025T>A | NP_001372609.1:p.Leu342Gln | |
NM_182919.4:c.1667T>A MANE Select | NP_891549.1:p.Leu556Gln |