HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192785A>C , CM000685.2:g.50192785A>C | GRCh38 |
NC_000023.10:g.49957436A>C , CM000685.1:g.49957436A>C | GRCh37 |
NC_000023.9:g.49844176A>C | NCBI36 |
NG_012552.1:g.13229T>G | |
NG_012552.2:g.13229T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.1928T>G MANE Select | ENSP00000351327.2:p.Phe643Cys | |
ENST00000358526.6:c.1928T>G | ENSP00000351327.2:p.Phe643Cys | |
ENST00000376064.7:c.1901T>G | ENSP00000365232.3:p.Phe634Cys | |
ENST00000481402.5:n.2040T>G | ||
NM_003886.2:c.1928T>G | NP_003877.2:p.Phe643Cys | |
NM_139289.1:c.1901T>G | NP_647450.1:p.Phe634Cys | |
NM_003886.3:c.1928T>G MANE Select | NP_003877.2:p.Phe643Cys | |
NM_139289.2:c.1901T>G | NP_647450.1:p.Phe634Cys |