HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431565C>G , CM000663.2:g.229431565C>G | GRCh38 |
NC_000001.10:g.229567312C>G , CM000663.1:g.229567312C>G | GRCh37 |
NC_000001.9:g.227633935C>G | NCBI36 |
NG_006672.1:g.7532G>C , LRG_429:g.7532G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.991-1G>C | ENSP00000355644.4:n.991-1G>C | |
ENST00000684723.1:c.933G>C | ENSP00000508084.1:p.Gln311His | |
ENST00000366683.3:c.699G>C | ENSP00000355644.3:p.Gln233His | |
ENST00000366684.7:c.1068G>C MANE Select | ENSP00000355645.3:p.Gln356His | |
NM_001100.3:c.1068G>C , LRG_429t1:c.1068G>C | NP_001091.1:p.Gln356His | |
NM_001100.4:c.1068G>C MANE Select | NP_001091.1:p.Gln356His |