HGVS | Genome Assembly |
---|---|
NC_000002.12:g.223053277G>C , CM000664.2:g.223053277G>C | GRCh38 |
NC_000002.11:g.223917995G>C , CM000664.1:g.223917995G>C | GRCh37 |
NC_000002.10:g.223626239G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281830.4:c.447G>C MANE Select | ENSP00000281830.5:p.Glu149Asp | |
ENST00000281830.3:c.600G>C | ENSP00000281830.4:p.Glu200Asp | |
ENST00000488477.2:n.75+1003G>C | ||
NM_080671.3:c.600G>C | NP_542402.3:p.Glu200Asp | |
NM_080671.4:c.447G>C MANE Select | NP_542402.4:p.Glu149Asp |