HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159304011A>C , CM000663.2:g.159304011A>C | GRCh38 |
NC_000001.10:g.159273801A>C , CM000663.1:g.159273801A>C | GRCh37 |
NC_000001.9:g.157540425A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000693622.1:c.160A>C MANE Select | ENSP00000509626.1:p.Asn54His | |
ENST00000368114.1:c.77-16A>C | ENSP00000357096.1:n.77-16A>C | |
ENST00000368115.5:c.160A>C | ENSP00000357097.1:p.Asn54His | |
NM_002001.3:c.160A>C | NP_001992.1:p.Asn54His | |
NM_001387280.1:c.160A>C MANE Select | NP_001374209.1:p.Asn54His | |
NM_001387281.1:c.76+1137A>C | NP_001374210.1:n.76+1137A>C | |
NM_001387282.1:c.77-16A>C | NP_001374211.1:n.77-16A>C | |
NM_002001.4:c.160A>C | NP_001992.1:p.Asn54His |