HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271524G>T , CM000668.2:g.31271524G>T | GRCh38 |
NC_000006.11:g.31239301G>T , CM000668.1:g.31239301G>T | GRCh37 |
NC_000006.10:g.31347280G>T | NCBI36 |
NG_029422.2:g.5608C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.343+75C>A MANE Select | ENSP00000365402.5:n.343+75C>A | |
ENST00000376228.9:c.343+75C>A | ENSP00000365402.5:n.343+75C>A | |
ENST00000376237.8:c.343+75C>A | ENSP00000365412.4:n.343+75C>A | |
ENST00000383329.7:c.343+75C>A | ENSP00000372819.3:n.343+75C>A | |
ENST00000415537.1:c.341+75C>A | ||
ENST00000484378.1:n.437C>A | ||
ENST00000487245.5:n.527C>A | ||
ENST00000495835.1:n.532+75C>A | ||
NM_002117.5:c.343+75C>A | NP_002108.4:n.343+75C>A | |
NM_002117.6:c.343+75C>A MANE Select | NP_002108.4:n.343+75C>A |