HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352488T>C , CM000671.2:g.133352488T>C | GRCh38 |
NC_000009.10:g.135209164T>C | NCBI36 |
NG_008477.1:g.9019A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.709A>G MANE Select | ENSP00000361042.3:p.Arg237Gly | |
ENST00000371974.7:c.709A>G | ENSP00000361042.3:p.Arg237Gly | |
ENST00000437995.1:n.619A>G | ||
ENST00000495952.5:n.699A>G | ||
ENST00000615505.4:c.382A>G | ENSP00000482067.1:p.Arg128Gly | |
NM_001280787.1:c.382A>G | NP_001267716.1:p.Arg128Gly | |
NM_003172.3:c.709A>G | NP_003163.1:p.Arg237Gly | |
XM_011518942.1:c.382A>G | XP_011517244.1:p.Arg128Gly | |
NM_003172.4:c.709A>G MANE Select | NP_003163.1:p.Arg237Gly |