HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145646A>T , CM000670.2:g.38145646A>T | GRCh38 |
NC_000008.10:g.38003164A>T , CM000670.1:g.38003164A>T | GRCh37 |
NC_000008.9:g.38122321A>T | NCBI36 |
NG_011827.1:g.10437T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.650+317T>A MANE Select | ENSP00000276449.3:n.650+317T>A | |
ENST00000276449.8:c.650+317T>A | ENSP00000276449.3:n.650+317T>A | |
ENST00000520114.1:n.1454T>A | ||
ENST00000522050.1:c.586+317T>A | ||
NM_000349.2:c.650+317T>A | NP_000340.2:n.650+317T>A | |
XM_006716392.1:c.650+317T>A | XP_006716455.1:n.650+317T>A | |
NM_000349.3:c.650+317T>A MANE Select | NP_000340.2:n.650+317T>A |