HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135789703G>T , CM000664.2:g.135789703G>T | GRCh38 |
NC_000002.11:g.136547273G>T , CM000664.1:g.136547273G>T | GRCh37 |
NC_000002.10:g.136263743G>T | NCBI36 |
NG_008104.2:g.70467C>A , LRG_338:g.70467C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.5431C>A MANE Select | ENSP00000264162.2:p.His1811Asn | |
ENST00000264162.6:c.5431C>A | ENSP00000264162.2:p.His1811Asn | |
NM_002299.2:c.5431C>A , LRG_338t1:c.5431C>A | NP_002290.2:p.His1811Asn | |
NM_002299.3:c.5431C>A | NP_002290.2:p.His1811Asn | |
NM_002299.4:c.5431C>A MANE Select | NP_002290.2:p.His1811Asn |