HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816658G>A , CM000681.2:g.4816658G>A | GRCh38 |
NC_000019.9:g.4816670G>A , CM000681.1:g.4816670G>A | GRCh37 |
NC_000019.8:g.4767670G>A | NCBI36 |
NG_031998.1:g.20085C>T , LRG_358:g.20085C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1720C>T MANE Select | ENSP00000248244.4:p.Leu574Phe | |
ENST00000248244.5:c.1720C>T | ENSP00000248244.4:p.Leu574Phe | |
ENST00000621756.1:c.1303C>T | ENSP00000479467.1:p.Leu435Phe | |
NM_182919.3:c.1720C>T , LRG_358t1:c.1720C>T | NP_891549.1:p.Leu574Phe | |
NM_001385678.1:c.1678C>T | NP_001372607.1:p.Leu560Phe | |
NM_001385679.1:c.1585C>T | NP_001372608.1:p.Leu529Phe | |
NM_001385680.1:c.1078C>T | NP_001372609.1:p.Leu360Phe | |
NM_182919.4:c.1720C>T MANE Select | NP_891549.1:p.Leu574Phe |