HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189003129C>G , CM000664.2:g.189003129C>G | GRCh38 |
NC_000002.11:g.189867855C>G , CM000664.1:g.189867855C>G | GRCh37 |
NC_000002.10:g.189576100C>G | NCBI36 |
NG_007404.1:g.33757C>G , LRG_3:g.33757C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2454+67C>G | ENSP00000415346.2:n.2454+67C>G | |
ENST00000304636.9:c.2553+67C>G MANE Select | ENSP00000304408.4:n.2553+67C>G | |
ENST00000304636.7:c.2553+67C>G | ENSP00000304408.3:n.2553+67C>G | |
ENST00000317840.9:c.2527+93C>G | ENSP00000315243.6:n.2527+93C>G | |
NM_000090.3:c.2553+67C>G , LRG_3t1:c.2553+67C>G | NP_000081.1:n.2553+67C>G | |
NM_000090.4:c.2553+67C>G MANE Select | NP_000081.2:n.2553+67C>G |