HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131890429G>C , CM000668.2:g.131890429G>C | GRCh38 |
NC_000006.11:g.132211569G>C , CM000668.1:g.132211569G>C | GRCh37 |
NC_000006.10:g.132253262G>C | NCBI36 |
NG_008206.1:g.87414G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684674.1:n.1127G>C | ||
ENST00000647893.1:c.2696G>C MANE Select | ENSP00000498074.1:p.Ser899Thr | |
ENST00000360971.6:c.2696G>C | ENSP00000354238.2:p.Ser899Thr | |
ENST00000513998.5:c.*1533G>C | ENSP00000422424.1:n.*1533G>C | |
NM_006208.2:c.2696G>C | NP_006199.2:p.Ser899Thr | |
XM_011535896.1:c.1586G>C | XP_011534198.1:p.Ser529Thr | |
NM_006208.3:c.2696G>C MANE Select | NP_006199.2:p.Ser899Thr |