HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186539507T>G , CM000665.2:g.186539507T>G | GRCh38 |
NC_000003.11:g.186257296T>G , CM000665.1:g.186257296T>G | GRCh37 |
NC_000003.10:g.187739990T>G | NCBI36 |
NG_009829.1:g.9872A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307944.6:c.112A>C MANE Select | ENSP00000312099.5:p.Asn38His | |
ENST00000307944.5:c.112A>C | ENSP00000312099.5:p.Asn38His | |
ENST00000392499.6:c.112A>C | ENSP00000376287.2:p.Asn38His | |
ENST00000460288.1:n.1014A>C | ||
NM_017541.2:c.112A>C | NP_060011.1:p.Asn38His | |
NM_017541.3:c.112A>C | NP_060011.1:p.Asn38His | |
NM_017541.4:c.112A>C MANE Select | NP_060011.1:p.Asn38His |