HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595475A>C , CM000681.2:g.3595475A>C | GRCh38 |
NC_000019.9:g.3595473A>C , CM000681.1:g.3595473A>C | GRCh37 |
NC_000019.8:g.3546473A>C | NCBI36 |
NG_013363.1:g.16359T>G , LRG_578:g.16359T>G | |
NG_031943.1:g.14905A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375190.10:c.*213T>G MANE Select | ENSP00000364336.4:n.*213T>G | |
ENST00000375190.8:c.*213T>G | ENSP00000364336.3:n.*213T>G | |
ENST00000411851.3:c.983+262T>G | ENSP00000393333.2:n.983+262T>G | |
ENST00000589966.1:c.*76T>G | ENSP00000468145.1:n.*76T>G | |
NM_001060.5:c.*213T>G , LRG_578t1:c.*213T>G | NP_001051.1:n.*213T>G | |
NM_201636.2:c.983+262T>G | NP_963998.2:n.983+262T>G | |
NM_001060.6:c.*213T>G MANE Select | NP_001051.1:n.*213T>G | |
NM_201636.3:c.983+262T>G | NP_963998.2:n.983+262T>G |