HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877125C>G , CM000668.2:g.131877125C>G | GRCh38 |
NC_000006.11:g.132198265C>G , CM000668.1:g.132198265C>G | GRCh37 |
NC_000006.10:g.132239958C>G | NCBI36 |
NG_008206.1:g.74110C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683687.1:n.729C>G | ||
ENST00000684536.1:n.355C>G | ||
ENST00000647893.1:c.1857C>G MANE Select | ENSP00000498074.1:p.Asn619Lys | |
ENST00000647981.1:n.542C>G | ||
ENST00000650437.1:c.1348C>G | ||
ENST00000360971.6:c.1857C>G | ENSP00000354238.2:p.Asn619Lys | |
ENST00000459624.1:n.901C>G | ||
ENST00000513998.5:c.*694C>G | ENSP00000422424.1:n.*694C>G | |
NM_006208.2:c.1857C>G | NP_006199.2:p.Asn619Lys | |
XM_011535896.1:c.747C>G | XP_011534198.1:p.Asn249Lys | |
NM_006208.3:c.1857C>G MANE Select | NP_006199.2:p.Asn619Lys |