HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73640983T>G , CM000664.2:g.73640983T>G | GRCh38 |
NC_000002.11:g.73868110T>G , CM000664.1:g.73868110T>G | GRCh37 |
NC_000002.10:g.73721618T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272425.4:c.646A>C MANE Select | ENSP00000272425.3:p.Ile216Leu | |
ENST00000272425.3:c.646A>C | ENSP00000272425.3:p.Ile216Leu | |
NM_003960.3:c.646A>C | NP_003951.3:p.Ile216Leu | |
NM_003960.4:c.646A>C MANE Select | NP_003951.3:p.Ile216Leu |