HGVS | Genome Assembly |
---|---|
NC_000011.10:g.59443725C>A , CM000673.2:g.59443725C>A | GRCh38 |
NC_000011.9:g.59211198C>A , CM000673.1:g.59211198C>A | GRCh37 |
NC_000011.8:g.58967774C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000641045.1:c.557C>A MANE Select | ENSP00000493195.1:p.Pro186Gln | |
ENST00000302030.2:c.557C>A | ENSP00000303096.2:p.Pro186Gln | |
NM_001004728.1:c.557C>A | NP_001004728.1:p.Pro186Gln | |
XM_011544810.1:c.557C>A | XP_011543112.1:p.Pro186Gln | |
NM_001004728.2:c.557C>A MANE Select | NP_001004728.1:p.Pro186Gln |