HGVS | Genome Assembly |
---|---|
NC_000011.10:g.74005752T>C , CM000673.2:g.74005752T>C | GRCh38 |
NC_000011.9:g.73716797T>C , CM000673.1:g.73716797T>C | GRCh37 |
NC_000011.8:g.73394445T>C | NCBI36 |
NG_011515.1:g.8486A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000314032.9:c.519A>G MANE Select | ENSP00000323740.4:p.Glu173= | |
ENST00000314032.8:c.519A>G | ENSP00000323740.4:p.Glu173= | |
ENST00000426995.2:c.519A>G | ENSP00000392143.2:p.Glu173= | |
NM_003356.3:c.519A>G | NP_003347.1:p.Glu173= | |
NM_022803.2:c.519A>G | NP_073714.1:p.Glu173= | |
XR_950298.1:n.1768+9718T>C | ||
NM_003356.4:c.519A>G MANE Select | NP_003347.1:p.Glu173= | |
NM_022803.3:c.519A>G | NP_073714.1:p.Glu173= |