HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354448C>A , CM000678.2:g.81354448C>A | GRCh38 |
NC_000016.9:g.81388053C>A , CM000678.1:g.81388053C>A | GRCh37 |
NC_000016.8:g.79945554C>A | NCBI36 |
NG_009007.1:g.44483C>A , LRG_242:g.44483C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648349.2:c.*34C>A | ENSP00000498114.1:n.*34C>A | |
ENST00000648994.2:c.326C>A MANE Select | ENSP00000497351.1:p.Ala109Asp | |
ENST00000650388.1:c.168-2337C>A | ENSP00000498081.1:n.168-2337C>A | |
ENST00000674788.1:n.451C>A | ||
ENST00000568107.2:c.326C>A | ENSP00000476795.1:p.Ala109Asp | |
NM_022041.3:c.326C>A , LRG_242t1:c.326C>A | NP_071324.1:p.Ala109Asp | |
XM_017023734.1:c.-314C>A | XP_016879223.1:n.-314C>A | |
NM_001377486.1:c.-314C>A | NP_001364415.1:n.-314C>A | |
NM_022041.4:c.326C>A MANE Select | NP_071324.1:p.Ala109Asp |