HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154520T>C , CM000681.2:g.55154520T>C | GRCh38 |
NC_000019.9:g.55665888T>C , CM000681.1:g.55665888T>C | GRCh37 |
NC_000019.8:g.60357700T>C | NCBI36 |
NG_007866.2:g.8213A>G , LRG_432:g.8213A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.372+221A>G MANE Select | ENSP00000341838.5:n.372+221A>G | |
ENST00000665070.1:c.405+188A>G | ENSP00000499482.1:n.405+188A>G | |
ENST00000344887.9:c.372+221A>G | ENSP00000341838.5:n.372+221A>G | |
ENST00000585806.5:n.371+221A>G | ||
ENST00000586669.5:n.380+221A>G | ||
ENST00000587176.5:n.777A>G | ||
ENST00000588882.1:c.297+221A>G | ENSP00000466729.1:n.297+221A>G | |
NM_000363.4:c.372+221A>G , LRG_432t1:c.372+221A>G | NP_000354.4:n.372+221A>G | |
NM_000363.5:c.372+221A>G MANE Select | NP_000354.4:n.372+221A>G |