HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131890467T>C , CM000668.2:g.131890467T>C | GRCh38 |
NC_000006.11:g.132211607T>C , CM000668.1:g.132211607T>C | GRCh37 |
NC_000006.10:g.132253300T>C | NCBI36 |
NG_008206.1:g.87452T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684674.1:n.1165T>C | ||
ENST00000647893.1:c.2734T>C MANE Select | ENSP00000498074.1:p.Leu912= | |
ENST00000360971.6:c.2734T>C | ENSP00000354238.2:p.Leu912= | |
ENST00000513998.5:c.*1571T>C | ENSP00000422424.1:n.*1571T>C | |
NM_006208.2:c.2734T>C | NP_006199.2:p.Leu912= | |
XM_011535896.1:c.1624T>C | XP_011534198.1:p.Leu542= | |
NM_006208.3:c.2734T>C MANE Select | NP_006199.2:p.Leu912= |