HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50221143G>C , CM000684.2:g.50221143G>C | GRCh38 |
NC_000022.10:g.50659572G>C , CM000684.1:g.50659572G>C | GRCh37 |
NC_000022.9:g.49001699G>C | NCBI36 |
NG_032160.1:g.28829C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3216C>G MANE Select | ENSP00000248846.5:p.Pro1072= | |
ENST00000248846.9:c.3216C>G | ENSP00000248846.5:p.Pro1072= | |
ENST00000439308.6:c.3216C>G | ENSP00000397387.2:p.Pro1072= | |
ENST00000491449.5:n.1523C>G | ||
ENST00000498611.5:n.3617+132C>G | ||
NM_020461.3:c.3216C>G | NP_065194.2:p.Pro1072= | |
XR_938347.1:n.3781C>G | ||
XR_938348.1:n.3049+885C>G | ||
XR_001755343.2:n.3785C>G | ||
XR_001755344.2:n.3785C>G | ||
XR_002958720.1:n.3053+885C>G | ||
XR_938347.2:n.3785C>G | ||
NM_020461.4:c.3216C>G MANE Select | NP_065194.3:p.Pro1072= |