HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176784A>T , CM000674.2:g.21176784A>T | GRCh38 |
NC_000012.11:g.21329718A>T , CM000674.1:g.21329718A>T | GRCh37 |
NC_000012.10:g.21220985A>T | NCBI36 |
NG_011745.1:g.50591A>T , LRG_1022:g.50591A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.368A>T MANE Select | ENSP00000256958.2:p.Tyr123Phe | |
ENST00000256958.2:c.368A>T | ENSP00000256958.2:p.Tyr123Phe | |
ENST00000543498.5:c.434A>T | ||
NM_006446.4:c.368A>T , LRG_1022t1:c.368A>T | NP_006437.3:p.Tyr123Phe | |
NM_006446.5:c.368A>T MANE Select | NP_006437.3:p.Tyr123Phe |