HGVS | Genome Assembly |
---|---|
NC_000001.11:g.168293378T>C , CM000663.2:g.168293378T>C | GRCh38 |
NC_000001.10:g.168262616T>C , CM000663.1:g.168262616T>C | GRCh37 |
NC_000001.9:g.166529240T>C | NCBI36 |
NG_008244.1:g.17339T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367821.8:c.603+100T>C MANE Select | ENSP00000356795.3:n.603+100T>C | |
ENST00000367821.7:c.603+100T>C | ENSP00000356795.3:n.603+100T>C | |
ENST00000431969.5:c.400+100T>C | ||
NM_005149.2:c.603+100T>C | NP_005140.1:n.603+100T>C | |
NM_005149.3:c.603+100T>C MANE Select | NP_005140.1:n.603+100T>C |