HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8745538G>C , CM000665.2:g.8745538G>C | GRCh38 |
NC_000003.11:g.8787224G>C , CM000665.1:g.8787224G>C | GRCh37 |
NC_000003.10:g.8762224G>C | NCBI36 |
NG_008797.2:g.16729G>C , LRG_329:g.16729G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343849.3:c.127G>C MANE Select | ENSP00000341940.2:p.Asp43His | |
ENST00000343849.2:c.127G>C | ENSP00000341940.2:p.Asp43His | |
ENST00000397368.2:c.127G>C | ENSP00000380525.2:p.Asp43His | |
ENST00000472766.1:n.155+11548G>C | ||
NM_001234.4:c.127G>C | NP_001225.1:p.Asp43His | |
NM_033337.2:c.127G>C , LRG_329t1:c.127G>C | NP_203123.1:p.Asp43His | |
NM_001234.5:c.127G>C | NP_001225.1:p.Asp43His | |
NM_033337.3:c.127G>C MANE Select | NP_203123.1:p.Asp43His |