HGVS | Genome Assembly |
---|---|
NC_000004.12:g.134200814T>G , CM000666.2:g.134200814T>G | GRCh38 |
NC_000004.11:g.135121969T>G , CM000666.1:g.135121969T>G | GRCh37 |
NC_000004.10:g.135341419T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000421491.4:c.206A>C MANE Select | ENSP00000463233.1:p.Asp69Ala | |
ENST00000421491.3:c.206A>C | ENSP00000463233.1:p.Asp69Ala | |
NM_001114734.1:c.380A>C | NP_001108206.2:p.Asp127Ala | |
NM_001114734.2:c.206A>C MANE Select | NP_001108206.3:p.Asp69Ala | |
NM_001363585.1:c.206A>C | NP_001350514.1:p.Asp69Ala | |
XR_001741133.1:n.745A>C | ||
XR_001741134.1:n.745A>C | ||
XR_001741135.1:n.745A>C | ||
XR_001741136.1:n.745A>C | ||
XR_001741137.1:n.745A>C | ||
XR_001741138.1:n.745A>C | ||
XR_001741139.1:n.740A>C |