HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039099C>A , CM000663.2:g.197039099C>A | GRCh38 |
NC_000001.10:g.197008229C>A , CM000663.1:g.197008229C>A | GRCh37 |
NC_000001.9:g.195274852C>A | NCBI36 |
NG_012065.1:g.33169G>T , LRG_550:g.33169G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367412.2:c.*279G>T MANE Select | ENSP00000356382.2:n.*279G>T | |
ENST00000649282.1:c.1020G>T | ENSP00000497116.1:n.1020G>T | |
XM_011509283.2:c.*1200G>T | XP_011507585.1:n.*1200G>T | |
XM_011509284.2:c.*1200G>T | XP_011507586.1:n.*1200G>T | |
XM_011509286.2:c.*1200G>T | XP_011507588.1:n.*1200G>T | |
NM_001994.3:c.*279G>T MANE Select | NP_001985.2:n.*279G>T |