HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508766C>T , CM000672.2:g.122508766C>T | GRCh38 |
NC_000010.10:g.124268282C>T , CM000672.1:g.124268282C>T | GRCh37 |
NC_000010.9:g.124258272C>T | NCBI36 |
NG_011554.1:g.52242C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.1116C>T MANE Select | ENSP00000357980.3:p.Ala372= | |
ENST00000648167.1:c.798C>T | ENSP00000498033.1:p.Ala266= | |
ENST00000368984.7:c.1116C>T | ENSP00000357980.3:p.Ala372= | |
ENST00000420892.1:c.339C>T | ENSP00000412676.1:p.Ala113= | |
NM_002775.4:c.1116C>T | NP_002766.1:p.Ala372= | |
NM_002775.5:c.1116C>T MANE Select | NP_002766.1:p.Ala372= |