HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431825A>G , CM000663.2:g.229431825A>G | GRCh38 |
NC_000001.10:g.229567572A>G , CM000663.1:g.229567572A>G | GRCh37 |
NC_000001.9:g.227634195A>G | NCBI36 |
NG_006672.1:g.7272T>C , LRG_429:g.7272T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.886T>C | ENSP00000355644.4:p.Tyr296His | |
ENST00000684723.1:c.751T>C | ENSP00000508084.1:p.Tyr251His | |
ENST00000366683.3:c.517T>C | ENSP00000355644.3:p.Tyr173His | |
ENST00000366684.7:c.886T>C MANE Select | ENSP00000355645.3:p.Tyr296His | |
NM_001100.3:c.886T>C , LRG_429t1:c.886T>C | NP_001091.1:p.Tyr296His | |
NM_001100.4:c.886T>C MANE Select | NP_001091.1:p.Tyr296His |