HGVS | Genome Assembly |
---|---|
NC_000011.10:g.74005749T>G , CM000673.2:g.74005749T>G | GRCh38 |
NC_000011.9:g.73716794T>G , CM000673.1:g.73716794T>G | GRCh37 |
NC_000011.8:g.73394442T>G | NCBI36 |
NG_011515.1:g.8489A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000314032.9:c.522A>C MANE Select | ENSP00000323740.4:p.Gly174= | |
ENST00000314032.8:c.522A>C | ENSP00000323740.4:p.Gly174= | |
ENST00000426995.2:c.522A>C | ENSP00000392143.2:p.Gly174= | |
NM_003356.3:c.522A>C | NP_003347.1:p.Gly174= | |
NM_022803.2:c.522A>C | NP_073714.1:p.Gly174= | |
XR_950298.1:n.1768+9715T>G | ||
NM_003356.4:c.522A>C MANE Select | NP_003347.1:p.Gly174= | |
NM_022803.3:c.522A>C | NP_073714.1:p.Gly174= |