HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126751G>A , CM000681.2:g.9126751G>A | GRCh38 |
NC_000019.9:g.9237427G>A , CM000681.1:g.9237427G>A | GRCh37 |
NC_000019.8:g.9098427G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.200C>T MANE Select | ENSP00000302867.2:p.Ser67Phe | |
NM_001001958.1:c.200C>T MANE Select | NP_001001958.1:p.Ser67Phe |