HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176803C>T , CM000674.2:g.21176803C>T | GRCh38 |
NC_000012.11:g.21329737C>T , CM000674.1:g.21329737C>T | GRCh37 |
NC_000012.10:g.21221004C>T | NCBI36 |
NG_011745.1:g.50610C>T , LRG_1022:g.50610C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.387C>T MANE Select | ENSP00000256958.2:p.Ile129= | |
ENST00000256958.2:c.387C>T | ENSP00000256958.2:p.Ile129= | |
ENST00000543498.5:c.453C>T | ||
NM_006446.4:c.387C>T , LRG_1022t1:c.387C>T | NP_006437.3:p.Ile129= | |
NM_006446.5:c.387C>T MANE Select | NP_006437.3:p.Ile129= |