HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877163T>C , CM000668.2:g.131877163T>C | GRCh38 |
NC_000006.11:g.132198303T>C , CM000668.1:g.132198303T>C | GRCh37 |
NC_000006.10:g.132239996T>C | NCBI36 |
NG_008206.1:g.74148T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683687.1:n.767T>C | ||
ENST00000684536.1:n.393T>C | ||
ENST00000647893.1:c.1893+2T>C MANE Select | ENSP00000498074.1:n.1893+2T>C | |
ENST00000647981.1:n.578+2T>C | ||
ENST00000650437.1:c.1386T>C | ||
ENST00000360971.6:c.1893+2T>C | ENSP00000354238.2:n.1893+2T>C | |
ENST00000459624.1:n.939T>C | ||
ENST00000513998.5:c.*730+2T>C | ENSP00000422424.1:n.*730+2T>C | |
NM_006208.2:c.1893+2T>C | NP_006199.2:n.1893+2T>C | |
XM_011535896.1:c.783+2T>C | XP_011534198.1:n.783+2T>C | |
NM_006208.3:c.1893+2T>C MANE Select | NP_006199.2:n.1893+2T>C |