HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33850974T>G , CM000682.2:g.33850974T>G | GRCh38 |
NC_000020.10:g.32438780T>G , CM000682.1:g.32438780T>G | GRCh37 |
NC_000020.9:g.31902441T>G | NCBI36 |
NG_015820.1:g.44671T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000217402.3:c.391T>G MANE Select | ENSP00000217402.2:p.Leu131Val | |
ENST00000217402.2:c.391T>G | ENSP00000217402.2:p.Leu131Val | |
NM_176812.4:c.391T>G | NP_789782.1:p.Leu131Val | |
NM_176812.5:c.391T>G MANE Select | NP_789782.1:p.Leu131Val |