HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32049972T>G , CM000684.2:g.32049972T>G | GRCh38 |
NC_000022.10:g.32445959T>G , CM000684.1:g.32445959T>G | GRCh37 |
NC_000022.9:g.30775959T>G | NCBI36 |
NG_017045.1:g.11941T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266088.9:c.165T>G MANE Select | ENSP00000266088.4:p.Val55= | |
ENST00000266088.8:c.165T>G | ENSP00000266088.4:p.Val55= | |
NM_000343.3:c.165T>G | NP_000334.1:p.Val55= | |
XM_011530331.1:c.165T>G | XP_011528633.1:p.Val55= | |
NM_000343.4:c.165T>G MANE Select | NP_000334.1:p.Val55= |