HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646670A>G , CM000666.2:g.68646670A>G | GRCh38 |
NC_000004.11:g.69512388A>G , CM000666.1:g.69512388A>G | GRCh37 |
NC_000004.10:g.69194983A>G | NCBI36 |
NG_052676.1:g.29107T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*434T>C MANE Select | ENSP00000341045.5:n.*434T>C | |
ENST00000338206.5:c.*434T>C | ENSP00000341045.5:n.*434T>C | |
ENST00000616841.4:c.1732+295T>C | ENSP00000482004.1:n.1732+295T>C | |
NM_001076.3:c.*434T>C | NP_001067.2:n.*434T>C | |
NM_001076.4:c.*434T>C MANE Select | NP_001067.2:n.*434T>C |