HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942008A>C , CM000672.2:g.94942008A>C | GRCh38 |
NC_000010.10:g.96701765A>C , CM000672.1:g.96701765A>C | GRCh37 |
NC_000010.9:g.96691755A>C | NCBI36 |
NG_008385.1:g.8351A>C | |
NG_008385.2:g.8851A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.319A>C MANE Select | ENSP00000260682.6:p.Asn107His | |
ENST00000643112.1:c.319A>C | ENSP00000496202.1:p.Asn107His | |
ENST00000645207.1:n.472A>C | ||
ENST00000260682.6:c.319A>C | ENSP00000260682.6:p.Asn107His | |
ENST00000461906.1:n.344A>C | ||
ENST00000473496.1:n.90A>C | ||
NM_000771.3:c.319A>C | NP_000762.2:p.Asn107His | |
NM_000771.4:c.319A>C MANE Select | NP_000762.2:p.Asn107His |