HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595561A>C , CM000681.2:g.3595561A>C | GRCh38 |
NC_000019.9:g.3595559A>C , CM000681.1:g.3595559A>C | GRCh37 |
NC_000019.8:g.3546559A>C | NCBI36 |
NG_013363.1:g.16273T>G , LRG_578:g.16273T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375190.10:c.*127T>G MANE Select | ENSP00000364336.4:n.*127T>G | |
ENST00000375190.8:c.*127T>G | ENSP00000364336.3:n.*127T>G | |
ENST00000411851.3:c.983+176T>G | ENSP00000393333.2:n.983+176T>G | |
ENST00000589966.1:c.770T>G | ENSP00000468145.1:p.Val257Gly | |
NM_001060.5:c.*127T>G , LRG_578t1:c.*127T>G | NP_001051.1:n.*127T>G | |
NM_201636.2:c.983+176T>G | NP_963998.2:n.983+176T>G | |
NM_001060.6:c.*127T>G MANE Select | NP_001051.1:n.*127T>G | |
NM_201636.3:c.983+176T>G | NP_963998.2:n.983+176T>G |