HGVS | Genome Assembly |
---|---|
NC_000020.11:g.58444073G>A , CM000682.2:g.58444073G>A | GRCh38 |
NC_000020.10:g.57019129G>A , CM000682.1:g.57019129G>A | GRCh37 |
NC_000020.9:g.56452535G>A | NCBI36 |
NG_008073.2:g.59885G>A , LRG_656:g.59885G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000475243.6:c.574-4G>A MANE Select | ENSP00000417175.1:n.574-4G>A | |
ENST00000265619.6:n.768-4G>A | ||
ENST00000395802.7:c.212-4G>A | ENSP00000379147.3:n.212-4G>A | |
ENST00000463370.5:n.918-4G>A | ||
ENST00000475243.5:c.574-4G>A | ENSP00000417175.1:n.574-4G>A | |
ENST00000476395.1:n.2108-4G>A | ||
ENST00000520497.1:c.*173-4G>A | ENSP00000430426.1:n.*173-4G>A | |
NM_001195677.1:c.212-4G>A | NP_001182606.1:n.212-4G>A | |
NM_004738.4:c.574-4G>A , LRG_656t1:c.574-4G>A | NP_004729.1:n.574-4G>A | |
NR_036633.1:n.730-4G>A | ||
NM_001195677.2:c.212-4G>A | NP_001182606.1:n.212-4G>A | |
NM_004738.5:c.574-4G>A MANE Select | NP_004729.1:n.574-4G>A | |
NR_036633.2:n.620-4G>A |