HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816961T>A , CM000681.2:g.4816961T>A | GRCh38 |
NC_000019.9:g.4816973T>A , CM000681.1:g.4816973T>A | GRCh37 |
NC_000019.8:g.4767973T>A | NCBI36 |
NG_031998.1:g.19782A>T , LRG_358:g.19782A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1417A>T MANE Select | ENSP00000248244.4:p.Met473Leu | |
ENST00000248244.5:c.1417A>T | ENSP00000248244.4:p.Met473Leu | |
ENST00000621756.1:c.1000A>T | ENSP00000479467.1:p.Met334Leu | |
NM_182919.3:c.1417A>T , LRG_358t1:c.1417A>T | NP_891549.1:p.Met473Leu | |
NM_001385678.1:c.1375A>T | NP_001372607.1:p.Met459Leu | |
NM_001385679.1:c.1282A>T | NP_001372608.1:p.Met428Leu | |
NM_001385680.1:c.775A>T | NP_001372609.1:p.Met259Leu | |
NM_182919.4:c.1417A>T MANE Select | NP_891549.1:p.Met473Leu |