HGVS | Genome Assembly |
---|---|
NC_000010.11:g.117263229T>C , CM000672.2:g.117263229T>C | GRCh38 |
NC_000010.10:g.119022740T>C , CM000672.1:g.119022740T>C | GRCh37 |
NC_000010.9:g.119012730T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644641.2:c.992-3504T>C MANE Select | ENSP00000496339.1:n.992-3504T>C | |
ENST00000298472.9:c.992-3504T>C | ENSP00000298472.5:n.992-3504T>C | |
ENST00000497497.1:n.1408-3504T>C | ||
NM_003054.4:c.992-3504T>C | NP_003045.2:n.992-3504T>C | |
NM_003054.5:c.992-3504T>C | NP_003045.2:n.992-3504T>C | |
NM_003054.6:c.992-3504T>C MANE Select | NP_003045.2:n.992-3504T>C |