HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48408541T>C , CM000677.2:g.48408541T>C | GRCh38 |
NC_000015.9:g.48700738T>C , CM000677.1:g.48700738T>C | GRCh37 |
NC_000015.8:g.46488030T>C | NCBI36 |
NG_008805.2:g.242248A>G , LRG_778:g.242248A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682170.1:n.5246A>G | ||
ENST00000682767.1:n.4362A>G | ||
ENST00000316623.10:c.*2449A>G MANE Select | ENSP00000325527.5:n.*2449A>G | |
ENST00000316623.9:c.*2449A>G | ENSP00000325527.5:n.*2449A>G | |
NM_000138.4:c.*2449A>G , LRG_778t1:c.*2449A>G | NP_000129.3:n.*2449A>G | |
NM_000138.5:c.*2449A>G MANE Select | NP_000129.3:n.*2449A>G |