HGVS | Genome Assembly |
---|---|
NC_000007.14:g.82819089C>A , CM000669.2:g.82819089C>A | GRCh38 |
NC_000007.13:g.82448405C>A , CM000669.1:g.82448405C>A | GRCh37 |
NC_000007.12:g.82286341C>A | NCBI36 |
NG_047145.1:g.348793G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333891.14:c.14791+3406G>T MANE Select | ENSP00000334319.8:n.14791+3406G>T | |
ENST00000333891.13:c.14791+3406G>T | ENSP00000334319.8:n.14791+3406G>T | |
ENST00000432078.2:n.279+2023G>T | ||
NM_033026.5:c.14791+3406G>T | NP_149015.2:n.14791+3406G>T | |
XM_017012006.2:c.7879+2023G>T | XP_016867495.1:n.7879+2023G>T | |
XR_001744643.2:n.17743+2023G>T | ||
NM_033026.6:c.14791+3406G>T MANE Select | NP_149015.2:n.14791+3406G>T |