HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021293G>C , CM000663.2:g.94021293G>C | GRCh38 |
NC_000001.10:g.94486849G>C , CM000663.1:g.94486849G>C | GRCh37 |
NC_000001.9:g.94259437G>C | NCBI36 |
NG_009073.1:g.104857C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.4965C>G MANE Select | ENSP00000359245.3:p.Thr1655= | |
ENST00000370225.3:c.4965C>G | ENSP00000359245.3:p.Thr1655= | |
ENST00000460514.1:n.459C>G | ||
ENST00000470771.1:n.75C>G | ||
ENST00000536513.5:c.1341C>G | ENSP00000439707.2:p.Thr447= | |
NM_000350.2:c.4965C>G | NP_000341.2:p.Thr1655= | |
NM_000350.3:c.4965C>G MANE Select | NP_000341.2:p.Thr1655= |