HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104064484G>C , CM000672.2:g.104064484G>C | GRCh38 |
NC_000010.10:g.105824242G>C , CM000672.1:g.105824242G>C | GRCh37 |
NC_000010.9:g.105814232G>C | NCBI36 |
NG_007069.1:g.26397C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.720C>G | ENSP00000358748.3:p.Thr240= | |
ENST00000648076.2:c.720C>G MANE Select | ENSP00000497653.1:p.Thr240= | |
ENST00000649118.1:n.835C>G | ||
ENST00000650263.1:c.672C>G | ENSP00000497850.1:p.Thr224= | |
ENST00000353479.9:c.720C>G | ENSP00000340937.5:p.Thr240= | |
ENST00000369733.7:c.720C>G | ENSP00000358748.3:p.Thr240= | |
ENST00000393211.3:c.720C>G | ENSP00000376905.3:p.Thr240= | |
ENST00000488320.1:n.65C>G | ||
NM_000494.3:c.720C>G | NP_000485.3:p.Thr240= | |
NM_000494.4:c.720C>G MANE Select | NP_000485.3:p.Thr240= |