HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3976716G>A , CM000681.2:g.3976716G>A | GRCh38 |
NC_000019.9:g.3976714G>A , CM000681.1:g.3976714G>A | GRCh37 |
NC_000019.8:g.3927714G>A | NCBI36 |
NG_042274.1:g.13748C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000309311.7:c.2415C>T MANE Select | ENSP00000307940.5:p.Gly805= | |
ENST00000309311.6:c.2415C>T | ENSP00000307940.5:p.Gly805= | |
ENST00000600794.1:c.108-416C>T | ||
NM_001961.3:c.2415C>T | NP_001952.1:p.Gly805= | |
NM_001961.4:c.2415C>T MANE Select | NP_001952.1:p.Gly805= |