HGVS | Genome Assembly |
---|---|
NC_000015.10:g.97960872A>C , CM000677.2:g.97960872A>C | GRCh38 |
NC_000015.9:g.98504102A>C , CM000677.1:g.98504102A>C | GRCh37 |
NC_000015.8:g.96305106A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268042.7:c.11A>C MANE Select | ENSP00000268042.6:p.Glu4Ala | |
ENST00000268042.6:c.11A>C | ENSP00000268042.6:p.Glu4Ala | |
NM_183376.2:c.11A>C | NP_899232.2:p.Glu4Ala | |
NM_183376.3:c.11A>C MANE Select | NP_899232.2:p.Glu4Ala |