HGVS | Genome Assembly |
---|---|
NC_000001.11:g.93997873G>C , CM000663.2:g.93997873G>C | GRCh38 |
NC_000001.10:g.94463429G>C , CM000663.1:g.94463429G>C | GRCh37 |
NC_000001.9:g.94236017G>C | NCBI36 |
NG_009073.1:g.128277C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.6717C>G MANE Select | ENSP00000359245.3:p.Thr2239= | |
ENST00000370225.3:c.6717C>G | ENSP00000359245.3:p.Thr2239= | |
ENST00000536513.5:c.3093C>G | ENSP00000439707.2:p.Thr1031= | |
NM_000350.2:c.6717C>G | NP_000341.2:p.Thr2239= | |
NM_000350.3:c.6717C>G MANE Select | NP_000341.2:p.Thr2239= |