HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220984A>G , CM000684.2:g.50220984A>G | GRCh38 |
NC_000022.10:g.50659413A>G , CM000684.1:g.50659413A>G | GRCh37 |
NC_000022.9:g.49001540A>G | NCBI36 |
NG_032160.1:g.28988T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3375T>C MANE Select | ENSP00000248846.5:p.Ala1125= | |
ENST00000248846.9:c.3375T>C | ENSP00000248846.5:p.Ala1125= | |
ENST00000439308.6:c.3375T>C | ENSP00000397387.2:p.Ala1125= | |
ENST00000491449.5:n.1682T>C | ||
ENST00000498611.5:n.3617+291T>C | ||
NM_020461.3:c.3375T>C | NP_065194.2:p.Ala1125= | |
XR_938347.1:n.3940T>C | ||
XR_938348.1:n.3050-969T>C | ||
XR_001755343.2:n.3944T>C | ||
XR_001755344.2:n.3944T>C | ||
XR_002958720.1:n.3054-969T>C | ||
XR_938347.2:n.3944T>C | ||
NM_020461.4:c.3375T>C MANE Select | NP_065194.3:p.Ala1125= |