HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72122775T>C , CM000679.2:g.72122775T>C | GRCh38 |
NC_000017.10:g.70118916T>C , CM000679.1:g.70118916T>C | GRCh37 |
NC_000017.9:g.67630511T>C | NCBI36 |
NG_012490.1:g.6756T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.488T>C MANE Select | ENSP00000245479.2:p.Val163Ala | |
ENST00000245479.2:c.488T>C | ENSP00000245479.2:p.Val163Ala | |
NM_000346.3:c.488T>C | NP_000337.1:p.Val163Ala | |
NM_000346.4:c.488T>C MANE Select | NP_000337.1:p.Val163Ala |