HGVS | Genome Assembly |
---|---|
NC_000017.11:g.70179421C>G , CM000679.2:g.70179421C>G | GRCh38 |
NC_000017.10:g.68175562C>G , CM000679.1:g.68175562C>G | GRCh37 |
NC_000017.9:g.65687157C>G | NCBI36 |
NG_008798.1:g.14887C>G , LRG_328:g.14887C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243457.4:c.*3098C>G MANE Select | ENSP00000243457.2:n.*3098C>G | |
ENST00000243457.3:c.*3098C>G | ENSP00000243457.2:n.*3098C>G | |
NM_000891.2:c.*3098C>G , LRG_328t1:c.*3098C>G | NP_000882.1:n.*3098C>G | |
NM_000891.3:c.*3098C>G MANE Select | NP_000882.1:n.*3098C>G |