HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775130G>C , CM000672.2:g.94775130G>C | GRCh38 |
NC_000010.10:g.96534887G>C , CM000672.1:g.96534887G>C | GRCh37 |
NC_000010.9:g.96524877G>C | NCBI36 |
NG_008384.2:g.17425G>C | |
NG_008384.3:g.17450G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.241G>C MANE Select | ENSP00000360372.3:p.Glu81Gln | |
ENST00000645461.1:n.1294G>C | ||
ENST00000371321.7:c.241G>C | ENSP00000360372.3:p.Glu81Gln | |
ENST00000464755.1:c.1004G>C | ENSP00000483243.1:p.Ter335Ser | |
ENST00000480405.2:c.241G>C | ENSP00000483847.1:p.Glu81Gln | |
NM_000769.2:c.241G>C | NP_000760.1:p.Glu81Gln | |
NM_000769.4:c.241G>C MANE Select | NP_000760.1:p.Glu81Gln |