HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220777G>C , CM000684.2:g.50220777G>C | GRCh38 |
NC_000022.10:g.50659206G>C , CM000684.1:g.50659206G>C | GRCh37 |
NC_000022.9:g.49001333G>C | NCBI36 |
NG_032160.1:g.29195C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3582C>G MANE Select | ENSP00000248846.5:p.Ala1194= | |
ENST00000248846.9:c.3582C>G | ENSP00000248846.5:p.Ala1194= | |
ENST00000439308.6:c.3582C>G | ENSP00000397387.2:p.Ala1194= | |
ENST00000491449.5:n.1889C>G | ||
ENST00000498611.5:n.3617+498C>G | ||
NM_020461.3:c.3582C>G | NP_065194.2:p.Ala1194= | |
XR_938347.1:n.4147C>G | ||
XR_938348.1:n.3050-762C>G | ||
XR_001755343.2:n.4151C>G | ||
XR_001755344.2:n.4151C>G | ||
XR_002958720.1:n.3054-762C>G | ||
XR_938347.2:n.4151C>G | ||
NM_020461.4:c.3582C>G MANE Select | NP_065194.3:p.Ala1194= |