HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218890257A>C , CM000664.2:g.218890257A>C | GRCh38 |
NC_000002.11:g.219754979A>C , CM000664.1:g.219754979A>C | GRCh37 |
NC_000002.10:g.219463223A>C | NCBI36 |
NG_012179.1:g.14725A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.650A>C MANE Select | ENSP00000258411.3:p.Asp217Ala | |
ENST00000258411.7:c.650A>C | ENSP00000258411.3:p.Asp217Ala | |
ENST00000458582.1:c.264-2517A>C | ||
NM_025216.2:c.650A>C | NP_079492.2:p.Asp217Ala | |
XM_011511928.1:c.599A>C | XP_011510230.1:p.Asp200Ala | |
XM_011511929.1:c.554A>C | XP_011510231.1:p.Asp185Ala | |
XM_011511930.1:c.377-2517A>C | XP_011510232.1:n.377-2517A>C | |
XM_011511929.2:c.554A>C | XP_011510231.1:p.Asp185Ala | |
NM_025216.3:c.650A>C MANE Select | NP_079492.2:p.Asp217Ala |