HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48409454C>A , CM000677.2:g.48409454C>A | GRCh38 |
NC_000015.9:g.48701651C>A , CM000677.1:g.48701651C>A | GRCh37 |
NC_000015.8:g.46488943C>A | NCBI36 |
NG_008805.2:g.241335G>T , LRG_778:g.241335G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682170.1:n.4333G>T | ||
ENST00000682767.1:n.3449G>T | ||
ENST00000316623.10:c.*1536G>T MANE Select | ENSP00000325527.5:n.*1536G>T | |
ENST00000316623.9:c.*1536G>T | ENSP00000325527.5:n.*1536G>T | |
NM_000138.4:c.*1536G>T , LRG_778t1:c.*1536G>T | NP_000129.3:n.*1536G>T | |
NM_000138.5:c.*1536G>T MANE Select | NP_000129.3:n.*1536G>T |