HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73414973C>T , CM000666.2:g.73414973C>T | GRCh38 |
NC_000004.11:g.74280690C>T , CM000666.1:g.74280690C>T | GRCh37 |
NC_000004.10:g.74499554C>T | NCBI36 |
NG_009291.1:g.15719C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.9:c.1059-62C>T MANE Select | ENSP00000295897.4:n.1059-62C>T | |
ENST00000295897.8:c.1059-62C>T | ENSP00000295897.4:n.1059-62C>T | |
ENST00000401494.7:c.714-62C>T | ENSP00000384695.3:n.714-62C>T | |
ENST00000415165.6:c.483-62C>T | ENSP00000401820.2:n.483-62C>T | |
ENST00000476441.6:c.*338-62C>T | ENSP00000423727.1:n.*338-62C>T | |
ENST00000484992.1:n.379-62C>T | ||
ENST00000503124.5:c.609-62C>T | ENSP00000421027.1:n.609-62C>T | |
ENST00000504043.1:n.62-62C>T | ||
ENST00000505649.5:n.745-62C>T | ||
ENST00000509063.5:c.1059-62C>T | ENSP00000422784.1:n.1059-62C>T | |
ENST00000511370.1:c.592-62C>T | ||
ENST00000621085.4:c.491-133C>T | ENSP00000483421.1:n.491-133C>T | |
ENST00000621628.4:c.487-129C>T | ENSP00000480485.1:n.487-129C>T | |
NM_000477.5:c.1059-62C>T | NP_000468.1:n.1059-62C>T | |
NM_000477.6:c.1059-62C>T | NP_000468.1:n.1059-62C>T | |
NM_000477.7:c.1059-62C>T MANE Select | NP_000468.1:n.1059-62C>T |