HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877010C>A , CM000668.2:g.131877010C>A | GRCh38 |
NC_000006.11:g.132198150C>A , CM000668.1:g.132198150C>A | GRCh37 |
NC_000006.10:g.132239843C>A | NCBI36 |
NG_008206.1:g.73995C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000683687.1:n.614C>A | ||
ENST00000684536.1:n.240C>A | ||
ENST00000647893.1:c.1742C>A MANE Select | ENSP00000498074.1:p.Pro581Gln | |
ENST00000647981.1:n.427C>A | ||
ENST00000650437.1:c.1233C>A | ||
ENST00000360971.6:c.1742C>A | ENSP00000354238.2:p.Pro581Gln | |
ENST00000459624.1:n.786C>A | ||
ENST00000513998.5:c.*579C>A | ENSP00000422424.1:n.*579C>A | |
NM_006208.2:c.1742C>A | NP_006199.2:p.Pro581Gln | |
XM_011535896.1:c.632C>A | XP_011534198.1:p.Pro211Gln | |
NM_006208.3:c.1742C>A MANE Select | NP_006199.2:p.Pro581Gln |