HGVS | Genome Assembly |
---|---|
NC_000001.11:g.216070309G>T , CM000663.2:g.216070309G>T | GRCh38 |
NC_000001.10:g.216243651G>T , CM000663.1:g.216243651G>T | GRCh37 |
NC_000001.9:g.214310274G>T | NCBI36 |
NG_009497.1:g.358088C>A | |
NG_009497.2:g.358140C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.5858-17C>A MANE Select | ENSP00000305941.3:n.5858-17C>A | |
ENST00000674083.1:c.5858-17C>A | ENSP00000501296.1:n.5858-17C>A | |
ENST00000307340.7:c.5858-17C>A | ENSP00000305941.3:n.5858-17C>A | |
NM_206933.2:c.5858-17C>A | NP_996816.2:n.5858-17C>A | |
NM_206933.3:c.5858-17C>A | NP_996816.2:n.5858-17C>A | |
NM_206933.4:c.5858-17C>A MANE Select | NP_996816.3:n.5858-17C>A |