HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6167438G>T , CM000668.2:g.6167438G>T | GRCh38 |
NC_000006.11:g.6167671G>T , CM000668.1:g.6167671G>T | GRCh37 |
NC_000006.10:g.6112670G>T | NCBI36 |
NG_008107.1:g.158254C>A , LRG_549:g.158254C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.1908+20C>A MANE Select | ENSP00000264870.3:n.1908+20C>A | |
ENST00000264870.7:c.1908+20C>A | ENSP00000264870.3:n.1908+20C>A | |
NM_000129.3:c.1908+20C>A , LRG_549t1:c.1908+20C>A | NP_000120.2:n.1908+20C>A | |
XM_006715010.2:c.1908+20C>A | XP_006715073.1:n.1908+20C>A | |
XM_011514342.1:c.2070+20C>A | XP_011512644.1:n.2070+20C>A | |
NM_000129.4:c.1908+20C>A MANE Select | NP_000120.2:n.1908+20C>A |