HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48486807C= , CM000677.2:g.48486807C= | GRCh38 |
NC_000015.9:g.48779004C= , CM000677.1:g.48779004C= | GRCh37 |
NC_000015.8:g.46566296C= | NCBI36 |
NG_008805.2:g.163982G= , LRG_778:g.163982G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.3589+268G= | ENSP00000453958.2:n.3589+268G= | |
ENST00000674301.2:c.3589+268G= | ENSP00000501333.2:n.3589+268G= | |
ENST00000684448.1:n.2263+268G= | ||
ENST00000316623.10:c.3589+268G= MANE Select | ENSP00000325527.5:n.3589+268G= | |
ENST00000316623.9:c.3589+268G= | ENSP00000325527.5:n.3589+268G= | |
ENST00000537463.6:c.637-12157G= | ENSP00000440294.2:n.637-12157G= | |
NM_000138.4:c.3589+268G= , LRG_778t1:c.3589+268G= | NP_000129.3:n.3589+268G= | |
NM_000138.5:c.3589+268G= MANE Select | NP_000129.3:n.3589+268G= |