HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177439670T>G , CM000666.2:g.177439670T>G | GRCh38 |
NC_000004.11:g.178360824T>G , CM000666.1:g.178360824T>G | GRCh37 |
NC_000004.10:g.178597818T>G | NCBI36 |
NG_011845.2:g.7834A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264595.7:c.300A>C MANE Select | ENSP00000264595.2:p.Gly100= | |
ENST00000264595.6:c.300A>C | ENSP00000264595.2:p.Gly100= | |
ENST00000506853.5:n.334A>C | ||
ENST00000510955.5:n.315+603A>C | ||
NM_000027.3:c.300A>C | NP_000018.2:p.Gly100= | |
NM_001171988.1:c.300A>C | NP_001165459.1:p.Gly100= | |
NR_033655.1:n.428A>C | ||
XM_006714123.2:c.300A>C | XP_006714186.1:p.Gly100= | |
XR_001741155.2:n.394A>C | ||
NM_000027.4:c.300A>C MANE Select | NP_000018.2:p.Gly100= | |
NM_001171988.2:c.300A>C | NP_001165459.1:p.Gly100= | |
NR_033655.2:n.362A>C |