HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220939G>T , CM000684.2:g.50220939G>T | GRCh38 |
NC_000022.10:g.50659368G>T , CM000684.1:g.50659368G>T | GRCh37 |
NC_000022.9:g.49001495G>T | NCBI36 |
NG_032160.1:g.29033C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3420C>A MANE Select | ENSP00000248846.5:p.Ala1140= | |
ENST00000248846.9:c.3420C>A | ENSP00000248846.5:p.Ala1140= | |
ENST00000439308.6:c.3420C>A | ENSP00000397387.2:p.Ala1140= | |
ENST00000491449.5:n.1727C>A | ||
ENST00000498611.5:n.3617+336C>A | ||
NM_020461.3:c.3420C>A | NP_065194.2:p.Ala1140= | |
XR_938347.1:n.3985C>A | ||
XR_938348.1:n.3050-924C>A | ||
XR_001755343.2:n.3989C>A | ||
XR_001755344.2:n.3989C>A | ||
XR_002958720.1:n.3054-924C>A | ||
XR_938347.2:n.3989C>A | ||
NM_020461.4:c.3420C>A MANE Select | NP_065194.3:p.Ala1140= |