HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48472553T>G , CM000677.2:g.48472553T>G | GRCh38 |
NC_000015.9:g.48764750T>G , CM000677.1:g.48764750T>G | GRCh37 |
NC_000015.8:g.46552042T>G | NCBI36 |
NG_008805.2:g.178236A>C , LRG_778:g.178236A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4334A>C | ENSP00000453958.2:p.Glu1445Ala | |
ENST00000674301.2:c.4334A>C | ENSP00000501333.2:p.Glu1445Ala | |
ENST00000683268.1:n.301A>C | ||
ENST00000684448.1:n.3008A>C | ||
ENST00000316623.10:c.4334A>C MANE Select | ENSP00000325527.5:p.Glu1445Ala | |
ENST00000316623.9:c.4334A>C | ENSP00000325527.5:p.Glu1445Ala | |
ENST00000537463.6:c.*97A>C | ENSP00000440294.2:n.*97A>C | |
NM_000138.4:c.4334A>C , LRG_778t1:c.4334A>C | NP_000129.3:p.Glu1445Ala | |
NM_000138.5:c.4334A>C MANE Select | NP_000129.3:p.Glu1445Ala |