HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50489915G>T , CM000684.2:g.50489915G>T | GRCh38 |
NC_000022.10:g.50928344G>T , CM000684.1:g.50928344G>T | GRCh37 |
NC_000022.9:g.49275210G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216075.11:c.*59G>T MANE Select | ENSP00000216075.6:n.*59G>T | |
ENST00000216075.10:c.*59G>T | ENSP00000216075.6:n.*59G>T | |
ENST00000395732.7:c.*90G>T | ENSP00000379081.3:n.*90G>T | |
ENST00000395733.7:c.*90G>T | ENSP00000379082.3:n.*90G>T | |
ENST00000451761.1:c.857G>T | ENSP00000409894.1:n.857G>T | |
NM_017584.5:c.*59G>T | NP_060054.4:n.*59G>T | |
XM_005261925.3:c.*59G>T | XP_005261982.1:n.*59G>T | |
XR_244455.2:n.3413G>T | ||
XM_005261925.4:c.*59G>T | XP_005261982.1:n.*59G>T | |
NM_017584.6:c.*59G>T MANE Select | NP_060054.4:n.*59G>T |