HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595524G>A , CM000681.2:g.3595524G>A | GRCh38 |
NC_000019.9:g.3595522G>A , CM000681.1:g.3595522G>A | GRCh37 |
NC_000019.8:g.3546522G>A | NCBI36 |
NG_013363.1:g.16310C>T , LRG_578:g.16310C>T | |
NG_031943.1:g.14954G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375190.10:c.*164C>T MANE Select | ENSP00000364336.4:n.*164C>T | |
ENST00000375190.8:c.*164C>T | ENSP00000364336.3:n.*164C>T | |
ENST00000411851.3:c.983+213C>T | ENSP00000393333.2:n.983+213C>T | |
ENST00000589966.1:c.*27C>T | ENSP00000468145.1:n.*27C>T | |
NM_001060.5:c.*164C>T , LRG_578t1:c.*164C>T | NP_001051.1:n.*164C>T | |
NM_201636.2:c.983+213C>T | NP_963998.2:n.983+213C>T | |
NM_001060.6:c.*164C>T MANE Select | NP_001051.1:n.*164C>T | |
NM_201636.3:c.983+213C>T | NP_963998.2:n.983+213C>T |