HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145715A>G , CM000670.2:g.38145715A>G | GRCh38 |
NC_000008.10:g.38003233A>G , CM000670.1:g.38003233A>G | GRCh37 |
NC_000008.9:g.38122390A>G | NCBI36 |
NG_011827.1:g.10368T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.650+248T>C MANE Select | ENSP00000276449.3:n.650+248T>C | |
ENST00000276449.8:c.650+248T>C | ENSP00000276449.3:n.650+248T>C | |
ENST00000520114.1:n.1385T>C | ||
ENST00000522050.1:c.586+248T>C | ||
NM_000349.2:c.650+248T>C | NP_000340.2:n.650+248T>C | |
XM_006716392.1:c.650+248T>C | XP_006716455.1:n.650+248T>C | |
NM_000349.3:c.650+248T>C MANE Select | NP_000340.2:n.650+248T>C |