HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19957406C>T , CM000670.2:g.19957406C>T | GRCh38 |
NC_000008.10:g.19814917C>T , CM000670.1:g.19814917C>T | GRCh37 |
NC_000008.9:g.19859197C>T | NCBI36 |
NG_008855.1:g.23336C>T | |
NG_008855.2:g.60690C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.1018+1323C>T MANE Select | ENSP00000497642.1:n.1018+1323C>T | |
ENST00000650478.1:c.79+1323C>T | ENSP00000497560.1:n.79+1323C>T | |
ENST00000311322.8:c.1018+1323C>T | ENSP00000309757.6:n.1018+1323C>T | |
NM_000237.2:c.1018+1323C>T | NP_000228.1:n.1018+1323C>T | |
NM_000237.3:c.1018+1323C>T MANE Select | NP_000228.1:n.1018+1323C>T |