HGVS | Genome Assembly |
---|---|
NC_000011.10:g.71483554C= , CM000673.2:g.71483554C= | GRCh38 |
NC_000011.9:g.71194600C= , CM000673.1:g.71194600C= | GRCh37 |
NC_000011.8:g.70872248C= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319023.7:c.1319+537C= MANE Select | ENSP00000326424.2:n.1319+537C= | |
ENST00000319023.6:c.1319+537C= | ENSP00000326424.2:n.1319+537C= | |
ENST00000524450.1:n.295+537C= | ||
ENST00000525200.5:c.2625+537C= | ||
ENST00000526039.6:n.494+537C= | ||
ENST00000529840.5:c.206+537C= | ENSP00000437172.1:n.206+537C= | |
ENST00000530055.5:c.206+537C= | ENSP00000431820.1:n.206+537C= | |
ENST00000531236.1:n.1384+537C= | ||
NM_018161.4:c.1319+537C= | NP_060631.2:n.1319+537C= | |
NM_018161.5:c.1319+537C= MANE Select | NP_060631.2:n.1319+537C= |