HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126456C>T , CM000681.2:g.9126456C>T | GRCh38 |
NC_000019.9:g.9237132C>T , CM000681.1:g.9237132C>T | GRCh37 |
NC_000019.8:g.9098132C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.495G>A MANE Select | ENSP00000302867.2:p.Gln165= | |
NM_001001958.1:c.495G>A MANE Select | NP_001001958.1:p.Gln165= |