HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30756594C>G , CM000678.2:g.30756594C>G | GRCh38 |
NC_000016.9:g.30767915C>G , CM000678.1:g.30767915C>G | GRCh37 |
NC_000016.8:g.30675416C>G | NCBI36 |
NG_016616.1:g.13296C>G | |
NG_016616.2:g.13296C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000563588.6:c.806C>G MANE Select | ENSP00000455607.1:p.Ser269Cys | |
ENST00000328273.11:c.818C>G | ENSP00000329968.7:p.Ser273Cys | |
ENST00000424889.7:c.806C>G | ENSP00000388571.3:p.Ser269Cys | |
ENST00000563588.5:c.806C>G | ENSP00000455607.1:p.Ser269Cys | |
ENST00000563913.5:n.1139C>G | ||
ENST00000564838.5:n.935C>G | ||
NM_000294.2:c.806C>G | NP_000285.1:p.Ser269Cys | |
NM_001172432.1:c.806C>G | NP_001165903.1:p.Ser269Cys | |
NM_000294.3:c.806C>G MANE Select | NP_000285.1:p.Ser269Cys | |
NM_001172432.2:c.806C>G | NP_001165903.1:p.Ser269Cys |