HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021386C>G , CM000663.2:g.94021386C>G | GRCh38 |
NC_000001.10:g.94486942C>G , CM000663.1:g.94486942C>G | GRCh37 |
NC_000001.9:g.94259530C>G | NCBI36 |
NG_009073.1:g.104764G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.4872G>C MANE Select | ENSP00000359245.3:p.Trp1624Cys | |
ENST00000370225.3:c.4872G>C | ENSP00000359245.3:p.Trp1624Cys | |
ENST00000460514.1:n.366G>C | ||
ENST00000536513.5:c.1248G>C | ENSP00000439707.2:p.Trp416Cys | |
NM_000350.2:c.4872G>C | NP_000341.2:p.Trp1624Cys | |
NM_000350.3:c.4872G>C MANE Select | NP_000341.2:p.Trp1624Cys |