HGVS | Genome Assembly |
---|---|
NC_000006.12:g.41336067G>A , CM000668.2:g.41336067G>A | GRCh38 |
NC_000006.11:g.41303805G>A , CM000668.1:g.41303805G>A | GRCh37 |
NC_000006.10:g.41411783G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373089.10:c.53-20G>A MANE Select | ENSP00000362181.5:n.53-20G>A | |
ENST00000373083.8:c.53-20G>A | ENSP00000362175.4:n.53-20G>A | |
ENST00000373086.3:c.53-20G>A | ENSP00000362178.3:n.53-20G>A | |
ENST00000373089.9:c.53-20G>A | ENSP00000362181.5:n.53-20G>A | |
NM_001199509.1:c.53-20G>A | NP_001186438.1:n.53-20G>A | |
NM_001199510.1:c.53-20G>A | NP_001186439.1:n.53-20G>A | |
NM_004828.3:c.53-20G>A | NP_004819.2:n.53-20G>A | |
XM_017011500.1:c.77-20G>A | XP_016866989.1:n.77-20G>A | |
NM_004828.4:c.53-20G>A MANE Select | NP_004819.2:n.53-20G>A | |
NM_001199509.2:c.53-20G>A | NP_001186438.1:n.53-20G>A | |
NM_001199510.2:c.53-20G>A | NP_001186439.1:n.53-20G>A |