HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48409354A>G , CM000677.2:g.48409354A>G | GRCh38 |
NC_000015.9:g.48701551A>G , CM000677.1:g.48701551A>G | GRCh37 |
NC_000015.8:g.46488843A>G | NCBI36 |
NG_008805.2:g.241435T>C , LRG_778:g.241435T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682170.1:n.4433T>C | ||
ENST00000682767.1:n.3549T>C | ||
ENST00000316623.10:c.*1636T>C MANE Select | ENSP00000325527.5:n.*1636T>C | |
ENST00000316623.9:c.*1636T>C | ENSP00000325527.5:n.*1636T>C | |
NM_000138.4:c.*1636T>C , LRG_778t1:c.*1636T>C | NP_000129.3:n.*1636T>C | |
NM_000138.5:c.*1636T>C MANE Select | NP_000129.3:n.*1636T>C |