HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241674T>G , CM000667.2:g.157241674T>G | GRCh38 |
NC_000005.9:g.156668684T>G , CM000667.1:g.156668684T>G | GRCh37 |
NC_000005.8:g.156601262T>G | NCBI36 |
NG_016276.1:g.65778T>G , LRG_189:g.65778T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696962.1:c.880T>G | ENSP00000513001.1:p.Leu294Val | |
ENST00000422843.8:c.1014T>G MANE Select | ENSP00000398655.4:p.Val338= | |
ENST00000422843.7:c.1014T>G | ENSP00000398655.3:p.Val338= | |
ENST00000519402.5:n.2599T>G | ||
ENST00000519749.1:n.84T>G | ||
ENST00000520173.1:n.132T>G | ||
NM_005546.3:c.1014T>G , LRG_189t1:c.1014T>G | NP_005537.3:p.Val338= | |
XM_017009443.1:c.639T>G | XP_016864932.1:p.Val213= | |
NM_005546.4:c.1014T>G MANE Select | NP_005537.3:p.Val338= |