HGVS | Genome Assembly |
---|---|
NC_000018.10:g.28171702G>A , CM000680.2:g.28171702G>A | GRCh38 |
NC_000018.9:g.25751666G>A , CM000680.1:g.25751666G>A | GRCh37 |
NC_000018.8:g.24005664G>A | NCBI36 |
NG_011959.1:g.10780C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269141.8:c.60+5261C>T MANE Select | ENSP00000269141.3:n.60+5261C>T | |
ENST00000413878.2:c.-343+5261C>T | ENSP00000414269.2:n.-343+5261C>T | |
ENST00000430882.6:c.-388+5261C>T | ENSP00000412120.2:n.-388+5261C>T | |
ENST00000675708.1:c.-196+5261C>T | ENSP00000501654.1:n.-196+5261C>T | |
ENST00000676445.1:c.-196+6161C>T | ENSP00000502206.1:n.-196+6161C>T | |
ENST00000269141.7:c.60+5261C>T | ENSP00000269141.3:n.60+5261C>T | |
NM_001792.3:c.60+5261C>T | NP_001783.2:n.60+5261C>T | |
NM_001792.4:c.60+5261C>T | NP_001783.2:n.60+5261C>T | |
XM_017025514.2:c.60+5261C>T | XP_016881003.1:n.60+5261C>T | |
NM_001792.5:c.60+5261C>T MANE Select | NP_001783.2:n.60+5261C>T |