HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126792G>C , CM000681.2:g.9126792G>C | GRCh38 |
NC_000019.9:g.9237468G>C , CM000681.1:g.9237468G>C | GRCh37 |
NC_000019.8:g.9098468G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.159C>G MANE Select | ENSP00000302867.2:p.Ser53= | |
NM_001001958.1:c.159C>G MANE Select | NP_001001958.1:p.Ser53= |