HGVS | Genome Assembly |
---|---|
NC_000007.14:g.5603525G>T , CM000669.2:g.5603525G>T | GRCh38 |
NC_000007.13:g.5643156G>T , CM000669.1:g.5643156G>T | GRCh37 |
NC_000007.12:g.5609682G>T | NCBI36 |
NG_030004.1:g.15721G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382361.8:c.1019G>T MANE Select | ENSP00000371798.3:p.Trp340Leu | |
ENST00000382361.7:c.1019G>T | ENSP00000371798.3:p.Trp340Leu | |
ENST00000405801.2:c.185G>T | ENSP00000383982.2:p.Trp62Leu | |
ENST00000444748.5:c.185G>T | ENSP00000404506.1:p.Trp62Leu | |
ENST00000447103.5:c.185G>T | ENSP00000409967.1:p.Trp62Leu | |
ENST00000473330.1:n.572G>T | ||
NM_003088.3:c.1019G>T | NP_003079.1:p.Trp340Leu | |
NM_003088.4:c.1019G>T MANE Select | NP_003079.1:p.Trp340Leu |