HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145216C>G , CM000670.2:g.96145216C>G | GRCh38 |
NC_000008.10:g.97157444C>G , CM000670.1:g.97157444C>G | GRCh37 |
NC_000008.9:g.97226620C>G | NCBI36 |
NG_008981.1:g.20577G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.715G>C MANE Select | ENSP00000287020.4:p.Glu239Gln | |
ENST00000287020.6:c.715G>C | ENSP00000287020.4:p.Glu239Gln | |
ENST00000620978.1:c.706+9G>C | ENSP00000480170.1:n.706+9G>C | |
ENST00000621429.1:c.715G>C | ENSP00000483711.1:p.Glu239Gln | |
NM_001001557.2:c.715G>C | NP_001001557.1:p.Glu239Gln | |
XM_011517030.1:c.316G>C | XP_011515332.1:p.Glu106Gln | |
NM_001001557.3:c.715G>C | NP_001001557.1:p.Glu239Gln | |
NM_001001557.4:c.715G>C MANE Select | NP_001001557.1:p.Glu239Gln |