HGVS | Genome Assembly |
---|---|
NC_000010.11:g.102836092G>A , CM000672.2:g.102836092G>A | GRCh38 |
NC_000010.10:g.104595849G>A , CM000672.1:g.104595849G>A | GRCh37 |
NC_000010.9:g.104585839G>A | NCBI36 |
NG_007955.1:g.6442C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369887.4:c.298-700C>T MANE Select | ENSP00000358903.3:n.298-700C>T | |
ENST00000638190.1:c.298-700C>T | ENSP00000492539.1:n.298-700C>T | |
ENST00000638272.1:c.297+973C>T | ENSP00000491508.1:n.297+973C>T | |
ENST00000638971.1:c.298-700C>T | ENSP00000492313.1:n.298-700C>T | |
ENST00000639393.1:c.298-700C>T | ENSP00000492651.1:n.298-700C>T | |
ENST00000640633.1:n.59+622C>T | ||
ENST00000369887.3:c.298-700C>T | ENSP00000358903.3:n.298-700C>T | |
ENST00000489268.1:n.351-499C>T | ||
NM_000102.3:c.298-700C>T | NP_000093.1:n.298-700C>T | |
NM_000102.4:c.298-700C>T MANE Select | NP_000093.1:n.298-700C>T |