HGVS | Genome Assembly |
---|---|
NC_000008.11:g.119000518T>G , CM000670.2:g.119000518T>G | GRCh38 |
NC_000008.10:g.120012757T>G , CM000670.1:g.120012757T>G | GRCh37 |
NC_000008.9:g.120081938T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521788.1:n.122+4945T>G | ||
XM_005250756.2:c.-60+48140T>G | XP_005250813.1:n.-60+48140T>G | |
NM_001324095.1:c.-323-36918T>G | NP_001311024.1:n.-323-36918T>G | |
XM_005250756.3:c.-60+48140T>G | XP_005250813.1:n.-60+48140T>G | |
NM_001324095.2:c.-323-36918T>G | NP_001311024.1:n.-323-36918T>G |