HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68429830A>G , CM000663.2:g.68429830A>G | GRCh38 |
NC_000001.10:g.68895513A>G , CM000663.1:g.68895513A>G | GRCh37 |
NC_000001.9:g.68668101A>G | NCBI36 |
NG_008472.1:g.25130T>C | |
NG_008472.2:g.25130T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1548T>C MANE Select | ENSP00000262340.5:p.Ala516= | |
ENST00000262340.5:c.1548T>C | ENSP00000262340.5:p.Ala516= | |
NM_000329.2:c.1548T>C | NP_000320.1:p.Ala516= | |
XM_017002027.1:c.1272T>C | XP_016857516.1:p.Ala424= | |
NM_000329.3:c.1548T>C MANE Select | NP_000320.1:p.Ala516= |