HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127854222G>C , CM000671.2:g.127854222G>C | GRCh38 |
NC_000009.11:g.130616501G>C , CM000671.1:g.130616501G>C | GRCh37 |
NC_000009.10:g.129656322G>C | NCBI36 |
NG_009551.1:g.5547C>G , LRG_589:g.5547C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373203.9:c.67+67C>G MANE Select | ENSP00000362299.4:n.67+67C>G | |
ENST00000344849.4:c.67+67C>G | ENSP00000341917.3:n.67+67C>G | |
ENST00000373203.8:c.67+67C>G | ENSP00000362299.4:n.67+67C>G | |
NM_000118.3:c.67+67C>G , LRG_589t1:c.67+67C>G | NP_000109.1:n.67+67C>G | |
NM_001114753.2:c.67+67C>G , LRG_589t2:c.67+67C>G | NP_001108225.1:n.67+67C>G | |
NM_001114753.3:c.67+67C>G MANE Select | NP_001108225.1:n.67+67C>G |