HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218692A>C , CM000676.2:g.93218692A>C | GRCh38 |
NC_000014.8:g.93685038A>C , CM000676.1:g.93685038A>C | GRCh37 |
NC_000014.7:g.92754791A>C | NCBI36 |
NG_051089.1:g.16637A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.767A>C MANE Select | ENSP00000013070.6:p.Asn256Thr | |
ENST00000013070.10:c.767A>C | ENSP00000013070.6:p.Asn256Thr | |
ENST00000416753.5:c.539A>C | ENSP00000391706.2:p.Asn180Thr | |
ENST00000553674.1:c.*468A>C | ENSP00000450470.1:n.*468A>C | |
ENST00000553857.5:c.378+3411A>C | ||
ENST00000555329.1:c.12A>C | ||
NM_175748.3:c.767A>C | NP_786924.2:p.Asn256Thr | |
NR_038150.1:n.869A>C | ||
NM_175748.4:c.767A>C MANE Select | NP_786924.2:p.Asn256Thr | |
NR_038150.2:n.669A>C |