HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94046964A>C , CM000663.2:g.94046964A>C | GRCh38 |
NC_000001.10:g.94512520A>C , CM000663.1:g.94512520A>C | GRCh37 |
NC_000001.9:g.94285108A>C | NCBI36 |
NG_009073.1:g.79186T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370225.4:c.2873T>G MANE Select | ENSP00000359245.3:p.Ile958Ser | |
ENST00000649773.1:c.2651T>G | ENSP00000496882.1:p.Ile884Ser | |
ENST00000370225.3:c.2873T>G | ENSP00000359245.3:p.Ile958Ser | |
ENST00000536513.5:c.-64-6875T>G | ENSP00000439707.2:n.-64-6875T>G | |
NM_000350.2:c.2873T>G | NP_000341.2:p.Ile958Ser | |
NM_000350.3:c.2873T>G MANE Select | NP_000341.2:p.Ile958Ser |