HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48430759T>C , CM000677.2:g.48430759T>C | GRCh38 |
NC_000015.9:g.48722956T>C , CM000677.1:g.48722956T>C | GRCh37 |
NC_000015.8:g.46510248T>C | NCBI36 |
NG_008805.2:g.220030A>G , LRG_778:g.220030A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.6783A>G | ENSP00000453958.2:p.Lys2261= | |
ENST00000674301.2:c.*234A>G | ENSP00000501333.2:n.*234A>G | |
ENST00000682170.1:n.392A>G | ||
ENST00000316623.10:c.6783A>G MANE Select | ENSP00000325527.5:p.Lys2261= | |
ENST00000674301.1:c.1887A>G | ENSP00000501333.1:n.1887A>G | |
ENST00000316623.9:c.6783A>G | ENSP00000325527.5:p.Lys2261= | |
ENST00000559133.5:c.2090A>G | ||
ENST00000560720.1:n.70A>G | ||
NM_000138.4:c.6783A>G , LRG_778t1:c.6783A>G | NP_000129.3:p.Lys2261= | |
NM_000138.5:c.6783A>G MANE Select | NP_000129.3:p.Lys2261= |