HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80274384C>A , CM000672.2:g.80274384C>A | GRCh38 |
NC_000010.10:g.82034140C>A , CM000672.1:g.82034140C>A | GRCh37 |
NC_000010.9:g.82024120C>A | NCBI36 |
NG_008083.1:g.20295G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.1085+136G>T MANE Select | ENSP00000361287.3:n.1085+136G>T | |
ENST00000372213.7:c.1085+136G>T | ENSP00000361287.3:n.1085+136G>T | |
ENST00000480845.1:n.317+136G>T | ||
ENST00000485270.5:n.597+136G>T | ||
NM_000429.2:c.1085+136G>T | NP_000420.1:n.1085+136G>T | |
XM_005269842.3:c.1085+136G>T | XP_005269899.1:n.1085+136G>T | |
XM_005269843.3:c.962+136G>T | XP_005269900.1:n.962+136G>T | |
NM_000429.3:c.1085+136G>T MANE Select | NP_000420.1:n.1085+136G>T |