HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48486831G= , CM000677.2:g.48486831G= | GRCh38 |
NC_000015.9:g.48779028G= , CM000677.1:g.48779028G= | GRCh37 |
NC_000015.8:g.46566320G= | NCBI36 |
NG_008805.2:g.163958C= , LRG_778:g.163958C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.3589+244C= | ENSP00000453958.2:n.3589+244C= | |
ENST00000674301.2:c.3589+244C= | ENSP00000501333.2:n.3589+244C= | |
ENST00000684448.1:n.2263+244C= | ||
ENST00000316623.10:c.3589+244C= MANE Select | ENSP00000325527.5:n.3589+244C= | |
ENST00000316623.9:c.3589+244C= | ENSP00000325527.5:n.3589+244C= | |
ENST00000537463.6:c.637-12181C= | ENSP00000440294.2:n.637-12181C= | |
NM_000138.4:c.3589+244C= , LRG_778t1:c.3589+244C= | NP_000129.3:n.3589+244C= | |
NM_000138.5:c.3589+244C= MANE Select | NP_000129.3:n.3589+244C= |