HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6079453T>G , CM000682.2:g.6079453T>G | GRCh38 |
NC_000020.10:g.6060100T>G , CM000682.1:g.6060100T>G | GRCh37 |
NC_000020.9:g.6008100T>G | NCBI36 |
NG_016213.1:g.49092A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699095.1:c.1843A>C | ENSP00000514127.1:p.Asn615His | |
ENST00000217289.9:c.1843A>C MANE Select | ENSP00000217289.4:p.Asn615His | |
ENST00000217289.8:c.1843A>C | ENSP00000217289.4:p.Asn615His | |
ENST00000478194.1:n.803A>C | ||
ENST00000536936.1:c.1072A>C | ENSP00000441063.1:p.Asn358His | |
NM_017671.4:c.1843A>C | NP_060141.3:p.Asn615His | |
XM_024451935.1:c.1843A>C | XP_024307703.1:p.Asn615His | |
NM_017671.5:c.1843A>C MANE Select | NP_060141.3:p.Asn615His |