HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48409446T>C , CM000677.2:g.48409446T>C | GRCh38 |
NC_000015.9:g.48701643T>C , CM000677.1:g.48701643T>C | GRCh37 |
NC_000015.8:g.46488935T>C | NCBI36 |
NG_008805.2:g.241343A>G , LRG_778:g.241343A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682170.1:n.4341A>G | ||
ENST00000682767.1:n.3457A>G | ||
ENST00000316623.10:c.*1544A>G MANE Select | ENSP00000325527.5:n.*1544A>G | |
ENST00000316623.9:c.*1544A>G | ENSP00000325527.5:n.*1544A>G | |
NM_000138.4:c.*1544A>G , LRG_778t1:c.*1544A>G | NP_000129.3:n.*1544A>G | |
NM_000138.5:c.*1544A>G MANE Select | NP_000129.3:n.*1544A>G |