HGVS | Genome Assembly |
---|---|
NC_000015.10:g.97960884C>A , CM000677.2:g.97960884C>A | GRCh38 |
NC_000015.9:g.98504114C>A , CM000677.1:g.98504114C>A | GRCh37 |
NC_000015.8:g.96305118C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268042.7:c.23C>A MANE Select | ENSP00000268042.6:p.Ala8Glu | |
ENST00000268042.6:c.23C>A | ENSP00000268042.6:p.Ala8Glu | |
NM_183376.2:c.23C>A | NP_899232.2:p.Ala8Glu | |
NM_183376.3:c.23C>A MANE Select | NP_899232.2:p.Ala8Glu |