HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19967140T= , CM000670.2:g.19967140T= | GRCh38 |
NC_000008.10:g.19824651T= , CM000670.1:g.19824651T= | GRCh37 |
NC_000008.9:g.19868931T= | NCBI36 |
NG_008855.1:g.33070T= | |
NG_008855.2:g.70424T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.*1830T= MANE Select | ENSP00000497642.1:n.*1830T= | |
ENST00000650478.1:c.2198T= | ENSP00000497560.1:n.2198T= | |
ENST00000311322.8:c.*1830T= | ENSP00000309757.6:n.*1830T= | |
NM_000237.2:c.*1830T= | NP_000228.1:n.*1830T= | |
NM_000237.3:c.*1830T= MANE Select | NP_000228.1:n.*1830T= |