HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42536623G>C , CM000679.2:g.42536623G>C | GRCh38 |
NC_000017.10:g.40688641G>C , CM000679.1:g.40688641G>C | GRCh37 |
NC_000017.9:g.37942167G>C | NCBI36 |
NG_011552.1:g.5691G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.351G>C MANE Select | ENSP00000225927.1:p.Val117= | |
ENST00000225927.6:c.351G>C | ENSP00000225927.1:p.Val117= | |
ENST00000586516.5:c.101G>C | ||
ENST00000591587.1:c.94G>C | ENSP00000467836.1:p.Ala32Pro | |
NM_000263.3:c.351G>C | NP_000254.2:p.Val117= | |
XM_006721920.2:c.-392G>C | XP_006721983.1:n.-392G>C | |
XM_011524840.1:c.-392G>C | XP_011523142.1:n.-392G>C | |
XM_024450771.1:c.351G>C | XP_024306539.1:p.Val117= | |
NM_000263.4:c.351G>C MANE Select | NP_000254.2:p.Val117= |