HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039112G>T , CM000663.2:g.197039112G>T | GRCh38 |
NC_000001.10:g.197008242G>T , CM000663.1:g.197008242G>T | GRCh37 |
NC_000001.9:g.195274865G>T | NCBI36 |
NG_012065.1:g.33156C>A , LRG_550:g.33156C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367412.2:c.*266C>A MANE Select | ENSP00000356382.2:n.*266C>A | |
ENST00000649282.1:c.1007C>A | ENSP00000497116.1:n.1007C>A | |
XM_011509283.2:c.*1187C>A | XP_011507585.1:n.*1187C>A | |
XM_011509284.2:c.*1187C>A | XP_011507586.1:n.*1187C>A | |
XM_011509286.2:c.*1187C>A | XP_011507588.1:n.*1187C>A | |
NM_001994.3:c.*266C>A MANE Select | NP_001985.2:n.*266C>A |