HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10650339T>G , CM000682.2:g.10650339T>G | GRCh38 |
NC_000020.10:g.10630987T>G , CM000682.1:g.10630987T>G | GRCh37 |
NC_000020.9:g.10578987T>G | NCBI36 |
NG_007496.1:g.28708A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.1142A>C MANE Select | ENSP00000254958.4:p.Asn381Thr | |
ENST00000617965.2:n.1731A>C | ||
ENST00000254958.9:c.1142A>C | ENSP00000254958.4:p.Asn381Thr | |
ENST00000423891.6:n.1008A>C | ||
NM_000214.2:c.1142A>C | NP_000205.1:p.Asn381Thr | |
NM_000214.3:c.1142A>C MANE Select | NP_000205.1:p.Asn381Thr |