HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48527414A>G , CM000685.2:g.48527414A>G | GRCh38 |
NC_000023.10:g.48385802A>G , CM000685.1:g.48385802A>G | GRCh37 |
NC_000023.9:g.48270746A>G | NCBI36 |
NG_007452.1:g.10639A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.469+129A>G MANE Select | ENSP00000417052.1:n.469+129A>G | |
ENST00000651615.1:c.469+129A>G | ENSP00000498524.1:n.469+129A>G | |
ENST00000276096.10:n.427+129A>G | ||
ENST00000446158.5:c.469+129A>G | ENSP00000390031.1:n.469+129A>G | |
ENST00000466461.1:n.437A>G | ||
ENST00000495186.5:c.469+129A>G | ENSP00000417052.1:n.469+129A>G | |
ENST00000498425.1:n.590+129A>G | ||
NM_006579.2:c.469+129A>G | NP_006570.1:n.469+129A>G | |
NM_006579.3:c.469+129A>G MANE Select | NP_006570.1:n.469+129A>G |