HGVS | Genome Assembly |
---|---|
NC_000022.11:g.35386870C>T , CM000684.2:g.35386870C>T | GRCh38 |
NC_000022.10:g.35782863C>T , CM000684.1:g.35782863C>T | GRCh37 |
NC_000022.9:g.34112863C>T | NCBI36 |
NG_023030.1:g.10804C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216117.9:c.330C>T MANE Select | ENSP00000216117.8:p.Ala110= | |
ENST00000481190.2:c.*235C>T | ENSP00000503987.1:n.*235C>T | |
ENST00000677931.1:c.145-2994C>T | ENSP00000502849.1:n.145-2994C>T | |
ENST00000678411.1:c.43-106C>T | ENSP00000503526.1:n.43-106C>T | |
ENST00000679074.1:c.330C>T | ENSP00000503459.1:p.Ala110= | |
ENST00000216117.8:c.330C>T | ENSP00000216117.8:p.Ala110= | |
ENST00000412893.5:c.330C>T | ENSP00000413316.1:p.Ala110= | |
ENST00000481190.1:n.544C>T | ||
NM_002133.2:c.330C>T | NP_002124.1:p.Ala110= | |
NM_002133.3:c.330C>T MANE Select | NP_002124.1:p.Ala110= |