HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133643517C>T , CM000671.2:g.133643517C>T | GRCh38 |
NC_000009.11:g.136508639C>T , CM000671.1:g.136508639C>T | GRCh37 |
NC_000009.10:g.135498460C>T | NCBI36 |
NG_008645.1:g.12155C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263611.3:c.696C>T | ENSP00000263611.3:p.Cys232= | |
ENST00000393056.8:c.849C>T MANE Select | ENSP00000376776.2:p.Cys283= | |
ENST00000263611.2:c.660C>T | ENSP00000263611.2:p.Cys220= | |
ENST00000393056.6:c.849C>T | ENSP00000376776.2:p.Cys283= | |
NM_000787.3:c.849C>T | NP_000778.3:p.Cys283= | |
NM_000787.4:c.849C>T MANE Select | NP_000778.3:p.Cys283= |