HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131890414A>C , CM000668.2:g.131890414A>C | GRCh38 |
NC_000006.11:g.132211554A>C , CM000668.1:g.132211554A>C | GRCh37 |
NC_000006.10:g.132253247A>C | NCBI36 |
NG_008206.1:g.87399A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684674.1:n.1112A>C | ||
ENST00000647893.1:c.2681A>C MANE Select | ENSP00000498074.1:p.His894Pro | |
ENST00000360971.6:c.2681A>C | ENSP00000354238.2:p.His894Pro | |
ENST00000513998.5:c.*1518A>C | ENSP00000422424.1:n.*1518A>C | |
NM_006208.2:c.2681A>C | NP_006199.2:p.His894Pro | |
XM_011535896.1:c.1571A>C | XP_011534198.1:p.His524Pro | |
NM_006208.3:c.2681A>C MANE Select | NP_006199.2:p.His894Pro |