HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354511C>A , CM000678.2:g.81354511C>A | GRCh38 |
NC_000016.9:g.81388116C>A , CM000678.1:g.81388116C>A | GRCh37 |
NC_000016.8:g.79945617C>A | NCBI36 |
NG_009007.1:g.44546C>A , LRG_242:g.44546C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*97C>A | ENSP00000498114.1:n.*97C>A | |
ENST00000648994.2:c.389C>A MANE Select | ENSP00000497351.1:p.Ala130Asp | |
ENST00000650388.1:c.168-2274C>A | ENSP00000498081.1:n.168-2274C>A | |
ENST00000674788.1:n.514C>A | ||
ENST00000568107.2:c.389C>A | ENSP00000476795.1:p.Ala130Asp | |
NM_022041.3:c.389C>A , LRG_242t1:c.389C>A | NP_071324.1:p.Ala130Asp | |
XM_017023734.1:c.-251C>A | XP_016879223.1:n.-251C>A | |
NM_001377486.1:c.-251C>A | NP_001364415.1:n.-251C>A | |
NM_022041.4:c.389C>A MANE Select | NP_071324.1:p.Ala130Asp |