HGVS | Genome Assembly |
---|---|
NC_000017.11:g.35576180C>G , CM000679.2:g.35576180C>G | GRCh38 |
NC_000017.10:g.33903199C>G , CM000679.1:g.33903199C>G | GRCh37 |
NC_000017.9:g.30927312C>G | NCBI36 |
NG_008447.1:g.7458G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225873.9:c.682G>C MANE Select | ENSP00000225873.3:p.Val228Leu | |
ENST00000586663.2:c.682G>C | ENSP00000466894.2:p.Val228Leu | |
ENST00000225873.8:c.682G>C | ENSP00000225873.3:p.Val228Leu | |
ENST00000586663.1:c.682G>C | ENSP00000466894.1:p.Val228Leu | |
ENST00000613219.4:c.682G>C | ENSP00000482609.1:p.Val228Leu | |
NM_000286.2:c.682G>C | NP_000277.1:p.Val228Leu | |
NM_000286.3:c.682G>C MANE Select | NP_000277.1:p.Val228Leu |