HGVS | Genome Assembly |
---|---|
NC_000017.11:g.70175787A>C , CM000679.2:g.70175787A>C | GRCh38 |
NC_000017.10:g.68171928A>C , CM000679.1:g.68171928A>C | GRCh37 |
NC_000017.9:g.65683523A>C | NCBI36 |
NG_008798.1:g.11253A>C , LRG_328:g.11253A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243457.4:c.748A>C MANE Select | ENSP00000243457.2:p.Ile250Leu | |
ENST00000243457.3:c.748A>C | ENSP00000243457.2:p.Ile250Leu | |
ENST00000535240.1:c.748A>C | ENSP00000441848.1:p.Ile250Leu | |
NM_000891.2:c.748A>C , LRG_328t1:c.748A>C | NP_000882.1:p.Ile250Leu | |
XM_011524779.1:c.748A>C | XP_011523081.1:p.Ile250Leu | |
NM_000891.3:c.748A>C MANE Select | NP_000882.1:p.Ile250Leu |