HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410962T>C , CM000677.2:g.48410962T>C | GRCh38 |
NC_000015.9:g.48703159T>C , CM000677.1:g.48703159T>C | GRCh37 |
NC_000015.8:g.46490451T>C | NCBI36 |
NG_008805.2:g.239827A>G , LRG_778:g.239827A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1452A>G | ENSP00000453958.2:n.*1452A>G | |
ENST00000682158.1:n.2025A>G | ||
ENST00000682170.1:n.2825A>G | ||
ENST00000682767.1:n.1941A>G | ||
ENST00000316623.10:c.*28A>G MANE Select | ENSP00000325527.5:n.*28A>G | |
ENST00000316623.9:c.*28A>G | ENSP00000325527.5:n.*28A>G | |
ENST00000559133.5:c.4013A>G | ||
NM_000138.4:c.*28A>G , LRG_778t1:c.*28A>G | NP_000129.3:n.*28A>G | |
NM_000138.5:c.*28A>G MANE Select | NP_000129.3:n.*28A>G |