HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595363A>C , CM000681.2:g.3595363A>C | GRCh38 |
NC_000019.9:g.3595361A>C , CM000681.1:g.3595361A>C | GRCh37 |
NC_000019.8:g.3546361A>C | NCBI36 |
NG_013363.1:g.16471T>G , LRG_578:g.16471T>G | |
NG_031943.1:g.14793A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375190.10:c.*325T>G MANE Select | ENSP00000364336.4:n.*325T>G | |
ENST00000375190.8:c.*325T>G | ENSP00000364336.3:n.*325T>G | |
ENST00000411851.3:c.984-287T>G | ENSP00000393333.2:n.984-287T>G | |
ENST00000589966.1:c.*188T>G | ENSP00000468145.1:n.*188T>G | |
NM_001060.5:c.*325T>G , LRG_578t1:c.*325T>G | NP_001051.1:n.*325T>G | |
NM_201636.2:c.984-287T>G | NP_963998.2:n.984-287T>G | |
NM_001060.6:c.*325T>G MANE Select | NP_001051.1:n.*325T>G | |
NM_201636.3:c.984-287T>G | NP_963998.2:n.984-287T>G |