HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160881836T>G , CM000663.2:g.160881836T>G | GRCh38 |
NC_000001.10:g.160851626T>G , CM000663.1:g.160851626T>G | GRCh37 |
NC_000001.9:g.159118250T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326245.4:c.405+121A>C MANE Select | ENSP00000323587.3:n.405+121A>C | |
ENST00000326245.3:c.405+121A>C | ENSP00000323587.3:n.405+121A>C | |
ENST00000464077.1:n.339+121A>C | ||
NM_017625.2:c.405+121A>C | NP_060095.2:n.405+121A>C | |
NM_017625.3:c.405+121A>C MANE Select | NP_060095.2:n.405+121A>C |