HGVS | Genome Assembly |
---|---|
NC_000004.12:g.134200317C>G , CM000666.2:g.134200317C>G | GRCh38 |
NC_000004.11:g.135121472C>G , CM000666.1:g.135121472C>G | GRCh37 |
NC_000004.10:g.135340922C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000421491.4:c.703G>C MANE Select | ENSP00000463233.1:p.Val235Leu | |
ENST00000421491.3:c.703G>C | ENSP00000463233.1:p.Val235Leu | |
NM_001114734.1:c.877G>C | NP_001108206.2:p.Val293Leu | |
NM_001114734.2:c.703G>C MANE Select | NP_001108206.3:p.Val235Leu | |
NM_001363585.1:c.703G>C | NP_001350514.1:p.Val235Leu | |
XR_001741133.1:n.1242G>C | ||
XR_001741134.1:n.1242G>C | ||
XR_001741135.1:n.1242G>C | ||
XR_001741136.1:n.1242G>C | ||
XR_001741137.1:n.1242G>C | ||
XR_001741138.1:n.1242G>C | ||
XR_001741139.1:n.1237G>C |