HGVS | Genome Assembly |
---|---|
NC_000017.11:g.70175417C>A , CM000679.2:g.70175417C>A | GRCh38 |
NC_000017.10:g.68171558C>A , CM000679.1:g.68171558C>A | GRCh37 |
NC_000017.9:g.65683153C>A | NCBI36 |
NG_008798.1:g.10883C>A , LRG_328:g.10883C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243457.4:c.378C>A MANE Select | ENSP00000243457.2:p.Val126= | |
ENST00000243457.3:c.378C>A | ENSP00000243457.2:p.Val126= | |
ENST00000535240.1:c.378C>A | ENSP00000441848.1:p.Val126= | |
NM_000891.2:c.378C>A , LRG_328t1:c.378C>A | NP_000882.1:p.Val126= | |
XM_011524779.1:c.378C>A | XP_011523081.1:p.Val126= | |
NM_000891.3:c.378C>A MANE Select | NP_000882.1:p.Val126= |