HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877108T>A , CM000668.2:g.131877108T>A | GRCh38 |
NC_000006.11:g.132198248T>A , CM000668.1:g.132198248T>A | GRCh37 |
NC_000006.10:g.132239941T>A | NCBI36 |
NG_008206.1:g.74093T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683687.1:n.712T>A | ||
ENST00000684536.1:n.338T>A | ||
ENST00000647893.1:c.1840T>A MANE Select | ENSP00000498074.1:p.Cys614Ser | |
ENST00000647981.1:n.525T>A | ||
ENST00000650437.1:c.1331T>A | ||
ENST00000360971.6:c.1840T>A | ENSP00000354238.2:p.Cys614Ser | |
ENST00000459624.1:n.884T>A | ||
ENST00000513998.5:c.*677T>A | ENSP00000422424.1:n.*677T>A | |
NM_006208.2:c.1840T>A | NP_006199.2:p.Cys614Ser | |
XM_011535896.1:c.730T>A | XP_011534198.1:p.Cys244Ser | |
NM_006208.3:c.1840T>A MANE Select | NP_006199.2:p.Cys614Ser |