HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176785T>G , CM000674.2:g.21176785T>G | GRCh38 |
NC_000012.11:g.21329719T>G , CM000674.1:g.21329719T>G | GRCh37 |
NC_000012.10:g.21220986T>G | NCBI36 |
NG_011745.1:g.50592T>G , LRG_1022:g.50592T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.369T>G MANE Select | ENSP00000256958.2:p.Tyr123Ter | |
ENST00000256958.2:c.369T>G | ENSP00000256958.2:p.Tyr123Ter | |
ENST00000543498.5:c.435T>G | ||
NM_006446.4:c.369T>G , LRG_1022t1:c.369T>G | NP_006437.3:p.Tyr123Ter | |
NM_006446.5:c.369T>G MANE Select | NP_006437.3:p.Tyr123Ter |