HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039105G>A , CM000663.2:g.197039105G>A | GRCh38 |
NC_000001.10:g.197008235G>A , CM000663.1:g.197008235G>A | GRCh37 |
NC_000001.9:g.195274858G>A | NCBI36 |
NG_012065.1:g.33163C>T , LRG_550:g.33163C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367412.2:c.*273C>T MANE Select | ENSP00000356382.2:n.*273C>T | |
ENST00000649282.1:c.1014C>T | ENSP00000497116.1:n.1014C>T | |
XM_011509283.2:c.*1194C>T | XP_011507585.1:n.*1194C>T | |
XM_011509284.2:c.*1194C>T | XP_011507586.1:n.*1194C>T | |
XM_011509286.2:c.*1194C>T | XP_011507588.1:n.*1194C>T | |
NM_001994.3:c.*273C>T MANE Select | NP_001985.2:n.*273C>T |