HGVS | Genome Assembly |
---|---|
NC_000002.12:g.20006006C>A , CM000664.2:g.20006006C>A | GRCh38 |
NC_000002.11:g.20205767C>A , CM000664.1:g.20205767C>A | GRCh37 |
NC_000002.10:g.20069248C>A | NCBI36 |
NG_008087.1:g.11689G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407540.8:c.528G>T MANE Select | ENSP00000383894.3:p.Val176= | |
ENST00000407540.7:c.528G>T | ENSP00000383894.3:p.Val176= | |
ENST00000421259.2:c.528G>T | ENSP00000398753.2:p.Val176= | |
NM_002381.4:c.528G>T | NP_002372.1:p.Val176= | |
NM_002381.5:c.528G>T MANE Select | NP_002372.1:p.Val176= |