HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28355475A>C , CM000675.2:g.28355475A>C | GRCh38 |
NC_000013.10:g.28929612A>C , CM000675.1:g.28929612A>C | GRCh37 |
NC_000013.9:g.27827612A>C | NCBI36 |
NG_012003.1:g.144654T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282397.9:c.2248+2079T>G MANE Select | ENSP00000282397.4:n.2248+2079T>G | |
ENST00000282397.8:c.2248+2079T>G | ENSP00000282397.4:n.2248+2079T>G | |
NM_002019.4:c.2248+2079T>G MANE Select | NP_002010.2:n.2248+2079T>G | |
XM_017020485.1:c.2248+2079T>G | XP_016875974.1:n.2248+2079T>G |