HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31531470G>A , CM000680.2:g.31531470G>A | GRCh38 |
NC_000018.9:g.29111433G>A , CM000680.1:g.29111433G>A | GRCh37 |
NC_000018.8:g.27365431G>A | NCBI36 |
NG_007072.3:g.38229G>A , LRG_397:g.38229G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683614.2:n.1329G>A | ||
ENST00000683614.1:c.1329G>A | ||
ENST00000261590.13:c.1280+218G>A MANE Select | ENSP00000261590.8:n.1280+218G>A | |
ENST00000261590.12:c.1280+218G>A | ENSP00000261590.8:n.1280+218G>A | |
NM_001943.3:c.1280+218G>A , LRG_397t1:c.1280+218G>A | NP_001934.2:n.1280+218G>A | |
NM_001943.4:c.1280+218G>A | NP_001934.2:n.1280+218G>A | |
XM_024451095.1:c.746+218G>A | XP_024306863.1:n.746+218G>A | |
NM_001943.5:c.1280+218G>A MANE Select | NP_001934.2:n.1280+218G>A |