HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104064460G>C , CM000672.2:g.104064460G>C | GRCh38 |
NC_000010.10:g.105824218G>C , CM000672.1:g.105824218G>C | GRCh37 |
NC_000010.9:g.105814208G>C | NCBI36 |
NG_007069.1:g.26421C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369733.8:c.744C>G | ENSP00000358748.3:p.Thr248= | |
ENST00000648076.2:c.744C>G MANE Select | ENSP00000497653.1:p.Thr248= | |
ENST00000649118.1:n.859C>G | ||
ENST00000650263.1:c.696C>G | ENSP00000497850.1:p.Thr232= | |
ENST00000353479.9:c.744C>G | ENSP00000340937.5:p.Thr248= | |
ENST00000369733.7:c.744C>G | ENSP00000358748.3:p.Thr248= | |
ENST00000393211.3:c.744C>G | ENSP00000376905.3:p.Thr248= | |
ENST00000488320.1:n.89C>G | ||
NM_000494.3:c.744C>G | NP_000485.3:p.Thr248= | |
NM_000494.4:c.744C>G MANE Select | NP_000485.3:p.Thr248= |