HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877157C>T , CM000668.2:g.131877157C>T | GRCh38 |
NC_000006.11:g.132198297C>T , CM000668.1:g.132198297C>T | GRCh37 |
NC_000006.10:g.132239990C>T | NCBI36 |
NG_008206.1:g.74142C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683687.1:n.761C>T | ||
ENST00000684536.1:n.387C>T | ||
ENST00000647893.1:c.1889C>T MANE Select | ENSP00000498074.1:p.Pro630Leu | |
ENST00000647981.1:n.574C>T | ||
ENST00000650437.1:c.1380C>T | ||
ENST00000360971.6:c.1889C>T | ENSP00000354238.2:p.Pro630Leu | |
ENST00000459624.1:n.933C>T | ||
ENST00000513998.5:c.*726C>T | ENSP00000422424.1:n.*726C>T | |
NM_006208.2:c.1889C>T | NP_006199.2:p.Pro630Leu | |
XM_011535896.1:c.779C>T | XP_011534198.1:p.Pro260Leu | |
NM_006208.3:c.1889C>T MANE Select | NP_006199.2:p.Pro630Leu |