HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40850474A>C , CM000681.2:g.40850474A>C | GRCh38 |
NC_000019.9:g.41356379A>C , CM000681.1:g.41356379A>C | GRCh37 |
NC_000019.8:g.46048219A>C | NCBI36 |
NG_008377.1:g.4974T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000601627.1:c.120-41517A>C | ||
ENST00000610301.1:c.91-138T>G | ENSP00000477899.1:n.91-138T>G |