HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145622G>A , CM000670.2:g.38145622G>A | GRCh38 |
NC_000008.10:g.38003140G>A , CM000670.1:g.38003140G>A | GRCh37 |
NC_000008.9:g.38122297G>A | NCBI36 |
NG_011827.1:g.10461C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.651-307C>T MANE Select | ENSP00000276449.3:n.651-307C>T | |
ENST00000276449.8:c.651-307C>T | ENSP00000276449.3:n.651-307C>T | |
ENST00000520114.1:n.1478C>T | ||
ENST00000522050.1:c.586+341C>T | ||
NM_000349.2:c.651-307C>T | NP_000340.2:n.651-307C>T | |
XM_006716392.1:c.650+341C>T | XP_006716455.1:n.650+341C>T | |
NM_000349.3:c.651-307C>T MANE Select | NP_000340.2:n.651-307C>T |