HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31524563T>G , CM000680.2:g.31524563T>G | GRCh38 |
NC_000018.9:g.29104526T>G , CM000680.1:g.29104526T>G | GRCh37 |
NC_000018.8:g.27358524T>G | NCBI36 |
NG_007072.3:g.31322T>G , LRG_397:g.31322T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682087.2:n.637T>G | ||
ENST00000683614.2:n.637T>G | ||
ENST00000682087.1:c.637T>G | ||
ENST00000683614.1:c.637T>G | ||
ENST00000261590.13:c.806T>G MANE Select | ENSP00000261590.8:p.Ile269Arg | |
ENST00000261590.12:c.806T>G | ENSP00000261590.8:p.Ile269Arg | |
NM_001943.3:c.806T>G , LRG_397t1:c.806T>G | NP_001934.2:p.Ile269Arg | |
NM_001943.4:c.806T>G | NP_001934.2:p.Ile269Arg | |
XM_024451095.1:c.272T>G | XP_024306863.1:p.Ile91Arg | |
NM_001943.5:c.806T>G MANE Select | NP_001934.2:p.Ile269Arg |