HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2251818T>G , CM000681.2:g.2251818T>G | GRCh38 |
NC_000019.9:g.2251817T>G , CM000681.1:g.2251817T>G | GRCh37 |
NC_000019.8:g.2202817T>G | NCBI36 |
NG_032853.1:g.9606A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221496.5:c.1544T>G MANE Select | ENSP00000221496.2:p.Val515Gly | |
ENST00000221496.4:c.1544T>G | ENSP00000221496.2:p.Val515Gly | |
NM_000479.5:c.1544T>G MANE Select | NP_000470.3:p.Val515Gly |