HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354491G>T , CM000678.2:g.81354491G>T | GRCh38 |
NC_000016.9:g.81388096G>T , CM000678.1:g.81388096G>T | GRCh37 |
NC_000016.8:g.79945597G>T | NCBI36 |
NG_009007.1:g.44526G>T , LRG_242:g.44526G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*77G>T | ENSP00000498114.1:n.*77G>T | |
ENST00000648994.2:c.369G>T MANE Select | ENSP00000497351.1:p.Glu123Asp | |
ENST00000650388.1:c.168-2294G>T | ENSP00000498081.1:n.168-2294G>T | |
ENST00000674788.1:n.494G>T | ||
ENST00000568107.2:c.369G>T | ENSP00000476795.1:p.Glu123Asp | |
NM_022041.3:c.369G>T , LRG_242t1:c.369G>T | NP_071324.1:p.Glu123Asp | |
XM_017023734.1:c.-271G>T | XP_016879223.1:n.-271G>T | |
NM_001377486.1:c.-271G>T | NP_001364415.1:n.-271G>T | |
NM_022041.4:c.369G>T MANE Select | NP_071324.1:p.Glu123Asp |