HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41422704C>G , CM000681.2:g.41422704C>G | GRCh38 |
NC_000019.9:g.41928609C>G , CM000681.1:g.41928609C>G | GRCh37 |
NC_000019.8:g.46620449C>G | NCBI36 |
NG_013004.1:g.29916C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269980.7:c.929C>G MANE Select | ENSP00000269980.2:p.Thr310Arg | |
ENST00000269980.6:c.929C>G | ENSP00000269980.2:p.Thr310Arg | |
ENST00000457836.6:c.863C>G | ENSP00000416000.2:p.Thr288Arg | |
ENST00000535632.5:n.558C>G | ||
ENST00000540732.3:c.1031C>G | ENSP00000443246.1:p.Thr344Arg | |
ENST00000542943.5:c.842C>G | ENSP00000440345.1:p.Thr281Arg | |
ENST00000545787.1:n.557C>G | ||
ENST00000595085.5:c.922+7C>G | ENSP00000471150.2:n.922+7C>G | |
NM_000709.3:c.929C>G | NP_000700.1:p.Thr310Arg | |
NM_001164783.1:c.926C>G | NP_001158255.1:p.Thr309Arg | |
NM_000709.4:c.929C>G MANE Select | NP_000700.1:p.Thr310Arg | |
NM_001164783.2:c.926C>G | NP_001158255.1:p.Thr309Arg |