HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58576778A>G , CM000663.2:g.58576778A>G | GRCh38 |
NC_000001.10:g.59042450A>G , CM000663.1:g.59042450A>G | GRCh37 |
NC_000001.9:g.58815038A>G | NCBI36 |
NG_016237.1:g.5717T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371225.4:c.379T>C MANE Select | ENSP00000360269.2:p.Cys127Arg | |
ENST00000371225.3:c.379T>C | ENSP00000360269.2:p.Cys127Arg | |
NM_002353.2:c.379T>C | NP_002344.2:p.Cys127Arg | |
NM_002353.3:c.379T>C MANE Select | NP_002344.2:p.Cys127Arg |