HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31531419A>G , CM000680.2:g.31531419A>G | GRCh38 |
NC_000018.9:g.29111382A>G , CM000680.1:g.29111382A>G | GRCh37 |
NC_000018.8:g.27365380A>G | NCBI36 |
NG_007072.3:g.38178A>G , LRG_397:g.38178A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683614.2:n.1278A>G | ||
ENST00000683614.1:c.1278A>G | ||
ENST00000261590.13:c.1280+167A>G MANE Select | ENSP00000261590.8:n.1280+167A>G | |
ENST00000261590.12:c.1280+167A>G | ENSP00000261590.8:n.1280+167A>G | |
NM_001943.3:c.1280+167A>G , LRG_397t1:c.1280+167A>G | NP_001934.2:n.1280+167A>G | |
NM_001943.4:c.1280+167A>G | NP_001934.2:n.1280+167A>G | |
XM_024451095.1:c.746+167A>G | XP_024306863.1:n.746+167A>G | |
NM_001943.5:c.1280+167A>G MANE Select | NP_001934.2:n.1280+167A>G |