HGVS | Genome Assembly |
---|---|
NC_000019.10:g.22431320A>C , CM000681.2:g.22431320A>C | GRCh38 |
NC_000019.9:g.22614122A>C , CM000681.1:g.22614122A>C | GRCh37 |
NC_000019.8:g.22405962A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000593802.1:c.316-27808T>G | ENSP00000472301.1:n.316-27808T>G |