HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271308C>T , CM000668.2:g.31271308C>T | GRCh38 |
NC_000006.11:g.31239085C>T , CM000668.1:g.31239085C>T | GRCh37 |
NC_000006.10:g.31347064C>T | NCBI36 |
NG_029422.2:g.5824G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.384G>A MANE Select | ENSP00000365402.5:p.Gly128= | |
ENST00000376228.9:c.384G>A | ENSP00000365402.5:p.Gly128= | |
ENST00000376237.8:c.367G>A | ENSP00000365412.4:p.Ala123Thr | |
ENST00000383329.7:c.384G>A | ENSP00000372819.3:p.Gly128= | |
ENST00000415537.1:c.382G>A | ||
ENST00000484378.1:n.653G>A | ||
ENST00000487245.5:n.743G>A | ||
ENST00000495835.1:n.573G>A | ||
NM_002117.5:c.384G>A | NP_002108.4:p.Gly128= | |
NM_002117.6:c.384G>A MANE Select | NP_002108.4:p.Gly128= |