HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877012G= , CM000668.2:g.131877012G= | GRCh38 |
NC_000006.11:g.132198152G= , CM000668.1:g.132198152G= | GRCh37 |
NC_000006.10:g.132239845G= | NCBI36 |
NG_008206.1:g.73997G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000683687.1:n.616G= | ||
ENST00000684536.1:n.242G= | ||
ENST00000647893.1:c.1744G= MANE Select | ENSP00000498074.1:p.Ala582= | |
ENST00000647981.1:n.429G= | ||
ENST00000650437.1:c.1235G= | ||
ENST00000360971.6:c.1744G= | ENSP00000354238.2:p.Ala582= | |
ENST00000459624.1:n.788G= | ||
ENST00000513998.5:c.*581G= | ENSP00000422424.1:n.*581G= | |
NM_006208.2:c.1744G= | NP_006199.2:p.Ala582= | |
XM_011535896.1:c.634G= | XP_011534198.1:p.Ala212= | |
NM_006208.3:c.1744G= MANE Select | NP_006199.2:p.Ala582= |