HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17053941G>T , CM000663.2:g.17053941G>T | GRCh38 |
NC_000001.10:g.17380436G>T , CM000663.1:g.17380436G>T | GRCh37 |
NC_000001.9:g.17253023G>T | NCBI36 |
NG_012340.1:g.5230C>A , LRG_316:g.5230C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375499.8:c.72+7C>A MANE Select | ENSP00000364649.3:n.72+7C>A | |
ENST00000375499.7:c.72+7C>A | ENSP00000364649.3:n.72+7C>A | |
ENST00000466613.2:n.84+7C>A | ||
ENST00000485515.5:n.60+7C>A | ||
NM_003000.2:c.72+7C>A , LRG_316t1:c.72+7C>A | NP_002991.2:n.72+7C>A | |
NM_003000.3:c.72+7C>A MANE Select | NP_002991.2:n.72+7C>A |