HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646854A>G , CM000666.2:g.68646854A>G | GRCh38 |
NC_000004.11:g.69512572A>G , CM000666.1:g.69512572A>G | GRCh37 |
NC_000004.10:g.69195167A>G | NCBI36 |
NG_052676.1:g.28923T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*250T>C MANE Select | ENSP00000341045.5:n.*250T>C | |
ENST00000338206.5:c.*250T>C | ENSP00000341045.5:n.*250T>C | |
ENST00000616841.4:c.1732+111T>C | ENSP00000482004.1:n.1732+111T>C | |
NM_001076.3:c.*250T>C | NP_001067.2:n.*250T>C | |
NM_001076.4:c.*250T>C MANE Select | NP_001067.2:n.*250T>C |