HGVS | Genome Assembly |
---|---|
NC_000004.12:g.134200778A>G , CM000666.2:g.134200778A>G | GRCh38 |
NC_000004.11:g.135121933A>G , CM000666.1:g.135121933A>G | GRCh37 |
NC_000004.10:g.135341383A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000421491.4:c.242T>C MANE Select | ENSP00000463233.1:p.Ile81Thr | |
ENST00000421491.3:c.242T>C | ENSP00000463233.1:p.Ile81Thr | |
NM_001114734.1:c.416T>C | NP_001108206.2:p.Ile139Thr | |
NM_001114734.2:c.242T>C MANE Select | NP_001108206.3:p.Ile81Thr | |
NM_001363585.1:c.242T>C | NP_001350514.1:p.Ile81Thr | |
XR_001741133.1:n.781T>C | ||
XR_001741134.1:n.781T>C | ||
XR_001741135.1:n.781T>C | ||
XR_001741136.1:n.781T>C | ||
XR_001741137.1:n.781T>C | ||
XR_001741138.1:n.781T>C | ||
XR_001741139.1:n.776T>C |