HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126430A>G , CM000681.2:g.9126430A>G | GRCh38 |
NC_000019.9:g.9237106A>G , CM000681.1:g.9237106A>G | GRCh37 |
NC_000019.8:g.9098106A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.521T>C MANE Select | ENSP00000302867.2:p.Ile174Thr | |
NM_001001958.1:c.521T>C MANE Select | NP_001001958.1:p.Ile174Thr |