HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73414954G>T , CM000666.2:g.73414954G>T | GRCh38 |
NC_000004.11:g.74280671G>T , CM000666.1:g.74280671G>T | GRCh37 |
NC_000004.10:g.74499535G>T | NCBI36 |
NG_009291.1:g.15700G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.9:c.1059-81G>T MANE Select | ENSP00000295897.4:n.1059-81G>T | |
ENST00000295897.8:c.1059-81G>T | ENSP00000295897.4:n.1059-81G>T | |
ENST00000401494.7:c.714-81G>T | ENSP00000384695.3:n.714-81G>T | |
ENST00000415165.6:c.483-81G>T | ENSP00000401820.2:n.483-81G>T | |
ENST00000476441.6:c.*338-81G>T | ENSP00000423727.1:n.*338-81G>T | |
ENST00000484992.1:n.379-81G>T | ||
ENST00000503124.5:c.609-81G>T | ENSP00000421027.1:n.609-81G>T | |
ENST00000504043.1:n.62-81G>T | ||
ENST00000505649.5:n.745-81G>T | ||
ENST00000509063.5:c.1059-81G>T | ENSP00000422784.1:n.1059-81G>T | |
ENST00000511370.1:c.592-81G>T | ||
ENST00000621085.4:c.491-152G>T | ENSP00000483421.1:n.491-152G>T | |
ENST00000621628.4:c.487-148G>T | ENSP00000480485.1:n.487-148G>T | |
NM_000477.5:c.1059-81G>T | NP_000468.1:n.1059-81G>T | |
NM_000477.6:c.1059-81G>T | NP_000468.1:n.1059-81G>T | |
NM_000477.7:c.1059-81G>T MANE Select | NP_000468.1:n.1059-81G>T |