HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104064469G>T , CM000672.2:g.104064469G>T | GRCh38 |
NC_000010.10:g.105824227G>T , CM000672.1:g.105824227G>T | GRCh37 |
NC_000010.9:g.105814217G>T | NCBI36 |
NG_007069.1:g.26412C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369733.8:c.735C>A | ENSP00000358748.3:p.Leu245= | |
ENST00000648076.2:c.735C>A MANE Select | ENSP00000497653.1:p.Leu245= | |
ENST00000649118.1:n.850C>A | ||
ENST00000650263.1:c.687C>A | ENSP00000497850.1:p.Leu229= | |
ENST00000353479.9:c.735C>A | ENSP00000340937.5:p.Leu245= | |
ENST00000369733.7:c.735C>A | ENSP00000358748.3:p.Leu245= | |
ENST00000393211.3:c.735C>A | ENSP00000376905.3:p.Leu245= | |
ENST00000488320.1:n.80C>A | ||
NM_000494.3:c.735C>A | NP_000485.3:p.Leu245= | |
NM_000494.4:c.735C>A MANE Select | NP_000485.3:p.Leu245= |