HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21013295T>G , CM000664.2:g.21013295T>G | GRCh38 |
NC_000002.11:g.21236167T>G , CM000664.1:g.21236167T>G | GRCh37 |
NC_000002.10:g.21089672T>G | NCBI36 |
NG_011793.1:g.35779A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673739.2:c.*3387A>C | ENSP00000501110.2:n.*3387A>C | |
ENST00000673739.1:c.3795A>C | ENSP00000501110.1:n.3795A>C | |
ENST00000233242.5:c.4081A>C MANE Select | ENSP00000233242.1:p.Asn1361His | |
ENST00000616098.4:c.4081A>C | ENSP00000477990.1:p.Asn1361His | |
NM_000384.2:c.4081A>C | NP_000375.2:p.Asn1361His | |
XM_011532809.1:c.4081A>C | XP_011531111.1:p.Asn1361His | |
NM_000384.3:c.4081A>C MANE Select | NP_000375.3:p.Asn1361His |