HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7529602A>G , CM000681.2:g.7529602A>G | GRCh38 |
NC_000019.9:g.7594488A>G , CM000681.1:g.7594488A>G | GRCh37 |
NC_000019.8:g.7500488A>G | NCBI36 |
NG_013374.1:g.451A>G | |
NG_015806.1:g.11993A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1249A>G MANE Select | ENSP00000264079.5:p.Thr417Ala | |
ENST00000264079.10:c.1249A>G | ENSP00000264079.5:p.Thr417Ala | |
ENST00000394321.9:n.1564A>G | ||
ENST00000594692.1:n.245A>G | ||
ENST00000595860.5:n.432A>G | ||
ENST00000599334.1:c.126A>G | ||
NM_020533.2:c.1249A>G | NP_065394.1:p.Thr417Ala | |
NM_020533.3:c.1249A>G MANE Select | NP_065394.1:p.Thr417Ala |