HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595584C>A , CM000681.2:g.3595584C>A | GRCh38 |
NC_000019.9:g.3595582C>A , CM000681.1:g.3595582C>A | GRCh37 |
NC_000019.8:g.3546582C>A | NCBI36 |
NG_013363.1:g.16250G>T , LRG_578:g.16250G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375190.10:c.*104G>T MANE Select | ENSP00000364336.4:n.*104G>T | |
ENST00000375190.8:c.*104G>T | ENSP00000364336.3:n.*104G>T | |
ENST00000411851.3:c.983+153G>T | ENSP00000393333.2:n.983+153G>T | |
ENST00000589966.1:c.747G>T | ENSP00000468145.1:p.Trp249Cys | |
NM_001060.5:c.*104G>T , LRG_578t1:c.*104G>T | NP_001051.1:n.*104G>T | |
NM_201636.2:c.983+153G>T | NP_963998.2:n.983+153G>T | |
NM_001060.6:c.*104G>T MANE Select | NP_001051.1:n.*104G>T | |
NM_201636.3:c.983+153G>T | NP_963998.2:n.983+153G>T |