HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877131A>T , CM000668.2:g.131877131A>T | GRCh38 |
NC_000006.11:g.132198271A>T , CM000668.1:g.132198271A>T | GRCh37 |
NC_000006.10:g.132239964A>T | NCBI36 |
NG_008206.1:g.74116A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683687.1:n.735A>T | ||
ENST00000684536.1:n.361A>T | ||
ENST00000647893.1:c.1863A>T MANE Select | ENSP00000498074.1:p.Arg621Ser | |
ENST00000647981.1:n.548A>T | ||
ENST00000650437.1:c.1354A>T | ||
ENST00000360971.6:c.1863A>T | ENSP00000354238.2:p.Arg621Ser | |
ENST00000459624.1:n.907A>T | ||
ENST00000513998.5:c.*700A>T | ENSP00000422424.1:n.*700A>T | |
NM_006208.2:c.1863A>T | NP_006199.2:p.Arg621Ser | |
XM_011535896.1:c.753A>T | XP_011534198.1:p.Arg251Ser | |
NM_006208.3:c.1863A>T MANE Select | NP_006199.2:p.Arg621Ser |