HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40866618A>C , CM000679.2:g.40866618A>C | GRCh38 |
NC_000017.10:g.39022870A>C , CM000679.1:g.39022870A>C | GRCh37 |
NC_000017.9:g.36276396A>C | NCBI36 |
NG_008077.1:g.5593T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251643.5:c.567+2T>G MANE Select | ENSP00000251643.4:n.567+2T>G | |
ENST00000647902.1:c.459+2T>G | ENSP00000497770.1:n.459+2T>G | |
ENST00000251643.4:c.567+2T>G | ENSP00000251643.4:n.567+2T>G | |
NM_000223.3:c.567+2T>G | NP_000214.1:n.567+2T>G | |
XR_934754.1:n.1500+15758A>C | ||
XR_934754.2:n.2008+15758A>C | ||
NM_000223.4:c.567+2T>G MANE Select | NP_000214.1:n.567+2T>G |