HGVS | Genome Assembly |
---|---|
NC_000002.12:g.223053220C>T , CM000664.2:g.223053220C>T | GRCh38 |
NC_000002.11:g.223917938C>T , CM000664.1:g.223917938C>T | GRCh37 |
NC_000002.10:g.223626182C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281830.4:c.390C>T MANE Select | ENSP00000281830.5:p.Ser130= | |
ENST00000281830.3:c.543C>T | ENSP00000281830.4:p.Ser181= | |
ENST00000488477.2:n.75+946C>T | ||
NM_080671.3:c.543C>T | NP_542402.3:p.Ser181= | |
NM_080671.4:c.390C>T MANE Select | NP_542402.4:p.Ser130= |