HGVS | Genome Assembly |
---|---|
NC_000023.11:g.151181274C>A , CM000685.2:g.151181274C>A | GRCh38 |
NC_000023.10:g.150349746C>A , CM000685.1:g.150349746C>A | GRCh37 |
NC_000023.9:g.150100404C>A | NCBI36 |
NG_016405.1:g.9691C>A | |
NG_016405.2:g.9691C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218316.4:c.1691C>A MANE Select | ENSP00000218316.3:p.Ala564Asp | |
ENST00000218316.3:c.1691C>A | ENSP00000218316.3:p.Ala564Asp | |
ENST00000617907.1:c.1685C>A | ENSP00000484496.1:p.Ala562Asp | |
NM_004224.3:c.1691C>A MANE Select | NP_004215.2:p.Ala564Asp | |
XM_011531216.1:c.950C>A | XP_011529518.1:p.Ala317Asp | |
XM_011531216.2:c.950C>A | XP_011529518.1:p.Ala317Asp |