HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981887G>T , CM000667.2:g.149981887G>T | GRCh38 |
NC_000005.9:g.149361450G>T , CM000667.1:g.149361450G>T | GRCh37 |
NC_000005.8:g.149341643G>T | NCBI36 |
NG_007147.2:g.23005G>T , LRG_684:g.23005G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.*74G>T MANE Select | ENSP00000286298.4:n.*74G>T | |
ENST00000286298.4:c.*74G>T | ENSP00000286298.4:n.*74G>T | |
ENST00000503336.1:c.372+3536G>T | ENSP00000426053.1:n.372+3536G>T | |
NM_000112.3:c.*74G>T , LRG_684t1:c.*74G>T | NP_000103.2:n.*74G>T | |
XM_017009191.2:c.*13-42G>T | XP_016864680.1:n.*13-42G>T | |
NM_000112.4:c.*74G>T MANE Select | NP_000103.2:n.*74G>T |