HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19958732C>A , CM000670.2:g.19958732C>A | GRCh38 |
NC_000008.10:g.19816243C>A , CM000670.1:g.19816243C>A | GRCh37 |
NC_000008.9:g.19860523C>A | NCBI36 |
NG_008855.1:g.24662C>A | |
NG_008855.2:g.62016C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.1019-528C>A MANE Select | ENSP00000497642.1:n.1019-528C>A | |
ENST00000650478.1:c.80-2169C>A | ENSP00000497560.1:n.80-2169C>A | |
ENST00000311322.8:c.1019-528C>A | ENSP00000309757.6:n.1019-528C>A | |
NM_000237.2:c.1019-528C>A | NP_000228.1:n.1019-528C>A | |
NM_000237.3:c.1019-528C>A MANE Select | NP_000228.1:n.1019-528C>A |