HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271240T>C , CM000668.2:g.31271240T>C | GRCh38 |
NC_000006.11:g.31239017T>C , CM000668.1:g.31239017T>C | GRCh37 |
NC_000006.10:g.31346996T>C | NCBI36 |
NG_029422.2:g.5892A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.452A>G MANE Select | ENSP00000365402.5:p.Asn151Ser | |
ENST00000376228.9:c.452A>G | ENSP00000365402.5:p.Asn151Ser | |
ENST00000376237.8:c.*39A>G | ENSP00000365412.4:n.*39A>G | |
ENST00000383329.7:c.452A>G | ENSP00000372819.3:p.Asn151Ser | |
ENST00000415537.1:c.450A>G | ||
ENST00000484378.1:n.721A>G | ||
ENST00000487245.5:n.811A>G | ||
ENST00000495835.1:n.641A>G | ||
NM_002117.5:c.452A>G | NP_002108.4:p.Asn151Ser | |
NM_002117.6:c.452A>G MANE Select | NP_002108.4:p.Asn151Ser |