HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173517G>A , CM000678.2:g.173517G>A | GRCh38 |
NC_000016.9:g.223516G>A , CM000678.1:g.223516G>A | GRCh37 |
NC_000016.8:g.163516G>A | NCBI36 |
NG_000006.1:g.34380G>A | |
NG_059186.1:g.1867G>A | |
NG_059271.1:g.5671G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.346G>A MANE Select | ENSP00000251595.6:p.Ala116Thr | |
ENST00000251595.10:c.346G>A | ENSP00000251595.6:p.Ala116Thr | |
ENST00000397806.1:c.250G>A | ENSP00000380908.1:p.Ala84Thr | |
ENST00000482565.1:n.482G>A | ||
NM_000517.4:c.346G>A | NP_000508.1:p.Ala116Thr | |
NM_000517.6:c.346G>A MANE Select | NP_000508.1:p.Ala116Thr |